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1. Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Author: Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara, Souza, Cleide dos Santos, Beal, Selina N., Lorenzini, Ileana, Huang, Ruili, Levy, Jennifer, Burciu, Camelia, Jones, Ashley, Dewan, Ramita, van Vugt, Joke J.F.A., van Rheenen, Wouter, Tunca, Ceren, Bayraktar, Elif, Xia, Menghang, Iacoangeli, Alfredo, Shatunov, Aleksey, Verde, Federico, Kenna, Kevin, Al Khleifat, Ahmad, Opie-Martin, Sarah, Piccinelli, Stefano Cotti, Padovani, Alessandro, Galimberti, Daniela, Serpente, Maria, Fenoglio, Chiara, Scarpini, Elio, Curtis, Charles J., Lee, Sang Hyuck, Chung, Raymond, Patel, Hamel, Cooper-Knock, Johnathan, Breen, Gerome, Dobson, Richard J.B., van den Berg, Leonard H., D’Alfonso, Sandra, Chandran, Siddharthan, Pal, Suvankar, Johnson, Kory, Doucet-O’Hare, Tara, Pasternack, Nicholas, Wang, Tongguang, Nath, Avindra, Veldink, Jan H., Chiò, Adriano, Sattler, Rita, Shaw, Christopher E., and Ferraiuolo, Laura
Published: 2024
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2. NOS1AP is a novel molecular target and critical factor in TDP-43 pathology

Author: Cappelli, Sara, Spalloni, Alida, Feiguin, Fabian, Visani, Giulia, Šušnjar, Urša, Brown, Anna-Leigh, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R, Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B, Van Deerlin, Vivianna M, Shneider, Neil A, Fraenkel, Ernest, Ostrow, Lyle W, Baas, Frank, Zaitlen, Noah, Berry, James D, Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A, Thompson, Leslie M, Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M, Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J, Heiman-Patterson, Terry, Hammell, Molly G, Patsopoulos, Nikolaos A, Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J, Adams, Darius J, Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, De Bardi, Marco, Borsellino, Giovanna, Secrier, Maria, Romano, Maurizio, Longone, Patrizia, and Buratti, Emanuele
Subjects: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Biotechnology, Genetics, Aetiology, 2.1 Biological and endogenous factors, NYGC ALS Consortium, ALS, CAPON/NOS1AP, RNA stability, TDP-43, hnRNPs, Clinical sciences, Biological psychology
Abstract: Many lines of evidence have highlighted the role played by heterogeneous nuclear ribonucleoproteins in amyotrophic lateral sclerosis. In this study, we have aimed to identify transcripts co-regulated by TAR DNA-binding protein 43 kDa and highly conserved heterogeneous nuclear ribonucleoproteins which have been previously shown to regulate TAR DNA-binding protein 43 kDa toxicity (deleted in azoospermia-associated protein 1, heterogeneous nuclear ribonucleoprotein -Q, -D, -K and -U). Using the transcriptome analyses, we have uncovered that Nitric Oxide Synthase 1 Adaptor Protein mRNA is a direct TAR DNA-binding protein 43 kDa target, and in flies, its modulation alone can rescue TAR DNA-binding protein 43 kDa pathology. In primary mouse cortical neurons, we show that TAR DNA-binding protein 43 kDa mediated downregulation of Nitric Oxide Synthase 1 Adaptor Protein expression strongly affects the NMDA-receptor signalling pathway. In human patients, the downregulation of Nitric Oxide Synthase 1 Adaptor Protein mRNA strongly correlates with TAR DNA-binding protein 43 kDa proteinopathy as measured by cryptic Stathmin-2 and Unc-13 homolog A cryptic exon inclusion. Overall, our results demonstrate that Nitric Oxide Synthase 1 Adaptor Protein may represent a novel disease-relevant gene, potentially suitable for the development of new therapeutic strategies.
Published: 2022

3. Effect of sodium phenylbutyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial

Author: Paganoni, Sabrina, Hendrix, Suzanne, Dickson, Samuel P, Knowlton, Newman, Berry, James D, Elliott, Michael A, Maiser, Samuel, Karam, Chafic, Caress, James B, Owegi, Margaret Ayo, Quick, Adam, Wymer, James, Goutman, Stephen A, Heitzman, Daragh, Heiman-Patterson, Terry D, Jackson, Carlayne, Quinn, Colin, Rothstein, Jeffrey D, Kasarskis, Edward J, Katz, Jonathan, Jenkins, Liberty, Ladha, Shafeeq S, Miller, Timothy M, Scelsa, Stephen N, Vu, Tuan H, Fournier, Christina, Johnson, Kristin M, Swenson, Andrea, Goyal, Namita, Pattee, Gary L, Babu, Suma, Chase, Marianne, Dagostino, Derek, Hall, Meghan, Kittle, Gale, Eydinov, Mathew, Ostrow, Joseph, Pothier, Lindsay, Randall, Rebecca, Shefner, Jeremy M, Sherman, Alexander V, Tustison, Eric, Vigneswaran, Prasha, Yu, Hong, Cohen, Joshua, Klee, Justin, Tanzi, Rudolph, Gilbert, Walter, Yeramian, Patrick, and Cudkowicz, Merit
Subjects: Rare Diseases, ALS, Neurosciences, Clinical Research, Clinical Trials and Supportive Activities, Neurodegenerative, Brain Disorders, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, MOTOR NEURON DISEASE, NEUROMUSCULAR, RANDOMISED TRIALS, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract: BackgroundCoformulated sodium phenylbutyrate/taurursodiol (PB/TURSO) was shown to prolong survival and slow functional decline in amyotrophic lateral sclerosis (ALS).ObjectiveDetermine whether PB/TURSO prolonged tracheostomy/ventilation-free survival and/or reduced first hospitalisation in participants with ALS in the CENTAUR trial.MethodsAdults with El Escorial Definite ALS ≤18 months from symptom onset were randomised to PB/ TURSO or placebo for 6 months. Those completing randomised treatment could enrol in an open-label extension (OLE) phase and receive PB/TURSO for ≤30 months. Times to the following individual or combined key events were compared in the originally randomised treatment groups over a period spanning trial start through July 2020 (longest postrandomisation follow-up, 35 months): death, tracheostomy, permanent assisted ventilation (PAV) and first hospitalisation.ResultsRisk of any key event was 47% lower in those originally randomised to PB/TURSO (n=87) versus placebo (n=48, 71% of whom received delayed-start PB/TURSO in the OLE phase) (HR=0.53; 95% CI 0.35 to 0.81; p=0.003). Risks of death or tracheostomy/PAV (HR=0.51; 95% CI 0.32 to 0.84; p=0.007) and first hospitalisation (HR=0.56; 95% CI 0.34 to 0.95; p=0.03) were also decreased in those originally randomised to PB/TURSO.ConclusionsEarly PB/TURSO prolonged tracheostomy/PAV-free survival and delayed first hospitalisation in ALS.Trial registration numberNCT03127514; NCT03488524.
Published: 2022

4. An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Author: Consortium, The NeuroLINCS, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R, Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B, Van Deerlin, Vivianna M, Shneider, Neil A, Fraenkel, Ernest, Ostrow, Lyle W, Baas, Frank, Zaitlen, Noah, Berry, James D, Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A, Thompson, Leslie M, Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M, Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J, Heiman-Patterson, Terry, Hammell, Molly G, Patsopoulos, Nikolaos A, Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J, Adams, Darius J, Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Li, Jonathan, Lim, Ryan G, Kaye, Julia A, Dardov, Victoria, Coyne, Alyssa N, Wu, Jie, Milani, Pamela, Cheng, Andrew, Thompson, Terri G, Ornelas, Loren, Frank, Aaron, Adam, Miriam, Banuelos, Maria G, Casale, Malcolm, Cox, Veerle, Escalante-Chong, Renan, Daigle, J Gavin, Gomez, Emilda, Hayes, Lindsey, Holewenski, Ronald, Lei, Susan, Lenail, Alex, Lima, Leandro, Mandefro, Berhan, Matlock, Andrea, Panther, Lindsay, Patel-Murray, Natasha Leanna, Pham, Jacqueline, Ramamoorthy, Divya, Sachs, Karen, Shelley, Brandon, Stocksdale, Jennifer, Trost, Hannah, Wilhelm, Mark, Venkatraman, Vidya, Wassie, Brook T, Wyman, Stacia, Yang, Stephanie, Consortium, NYGC ALS, Van Eyk, Jennifer E, Lloyd, Thomas E, and Finkbeiner, Steven
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Dementia, ALS, Neurodegenerative, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Brain Disorders, Stem Cell Research, Rare Diseases, Neurosciences, Stem Cell Research - Induced Pluripotent Stem Cell, Acquired Cognitive Impairment, Aging, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Good Health and Well Being, NeuroLINCS Consortium, NYGC ALS Consortium, Biological sciences, Neuroscience, Omics, Systems biology, Systems neuroscience
Abstract: Neurodegenerative diseases are challenging for systems biology because of the lack of reliable animal models or patient samples at early disease stages. Induced pluripotent stem cells (iPSCs) could address these challenges. We investigated DNA, RNA, epigenetics, and proteins in iPSC-derived motor neurons from patients with ALS carrying hexanucleotide expansions in C9ORF72. Using integrative computational methods combining all omics datasets, we identified novel and known dysregulated pathways. We used a C9ORF72 Drosophila model to distinguish pathways contributing to disease phenotypes from compensatory ones and confirmed alterations in some pathways in postmortem spinal cord tissue of patients with ALS. A different differentiation protocol was used to derive a separate set of C9ORF72 and control motor neurons. Many individual -omics differed by protocol, but some core dysregulated pathways were consistent. This strategy of analyzing patient-specific neurons provides disease-related outcomes with small numbers of heterogeneous lines and reduces variation from single-omics to elucidate network-based signatures.
Published: 2021

5. Long‐term survival of participants in the CENTAUR trial of sodium phenylbutyrate‐taurursodiol in amyotrophic lateral sclerosis

Author: Paganoni, Sabrina, Hendrix, Suzanne, Dickson, Samuel P, Knowlton, Newman, Macklin, Eric A, Berry, James D, Elliott, Michael A, Maiser, Samuel, Karam, Chafic, Caress, James B, Owegi, Margaret Ayo, Quick, Adam, Wymer, James, Goutman, Stephen A, Heitzman, Daragh, Heiman‐Patterson, Terry D, Jackson, Carlayne E, Quinn, Colin, Rothstein, Jeffrey D, Kasarskis, Edward J, Katz, Jonathan, Jenkins, Liberty, Ladha, Shafeeq, Miller, Timothy M, Scelsa, Stephen N, Vu, Tuan H, Fournier, Christina N, Glass, Jonathan D, Johnson, Kristin M, Swenson, Andrea, Goyal, Namita A, Pattee, Gary L, Andres, Patricia L, Babu, Suma, Chase, Marianne, Dagostino, Derek, Hall, Meghan, Kittle, Gale, Eydinov, Matthew, McGovern, Michelle, Ostrow, Joseph, Pothier, Lindsay, Randall, Rebecca, Shefner, Jeremy M, Sherman, Alexander V, St Pierre, Maria E, Tustison, Eric, Vigneswaran, Prasha, Walker, Jason, Yu, Hong, Chan, James, Wittes, Janet, Yu, Zi‐Fan, Cohen, Joshua, Klee, Justin, Leslie, Kent, Tanzi, Rudolph E, Gilbert, Walter, Yeramian, Patrick D, Schoenfeld, David, and Cudkowicz, Merit E
Subjects: Brain Disorders, Rare Diseases, Neurodegenerative, Clinical Trials and Supportive Activities, Clinical Research, ALS, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Double-Blind Method, Female, Humans, Male, Middle Aged, Neuroprotective Agents, Phenylbutyrates, Taurochenodeoxycholic Acid, Time, Young Adult, amyotrophic lateral sclerosis, CENTAUR, motor neuron disease, sodium phenylbutyrate&#8208, taurursodiol, survival analysis, sodium phenylbutyrate-taurursodiol, Medical and Health Sciences, Neurology & Neurosurgery
Abstract: An orally administered, fixed-dose coformulation of sodium phenylbutyrate-taurursodiol (PB-TURSO) significantly slowed functional decline in a randomized, placebo-controlled, phase 2 trial in ALS (CENTAUR). Herein we report results of a long-term survival analysis of participants in CENTAUR. In CENTAUR, adults with ALS were randomized 2:1 to PB-TURSO or placebo. Participants completing the 6-month (24-week) randomized phase were eligible to receive PB-TURSO in the open-label extension. An all-cause mortality analysis (35-month maximum follow-up post-randomization) incorporated all randomized participants. Participants and site investigators were blinded to treatment assignments through the duration of follow-up of this analysis. Vital status was obtained for 135 of 137 participants originally randomized in CENTAUR. Median overall survival was 25.0 months among participants originally randomized to PB-TURSO and 18.5 months among those originally randomized to placebo (hazard ratio, 0.56; 95% confidence interval, 0.34-0.92; P = .023). Initiation of PB-TURSO treatment at baseline resulted in a 6.5-month longer median survival as compared with placebo. Combined with results from CENTAUR, these results suggest that PB-TURSO has both functional and survival benefits in ALS.
Published: 2021

6. Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis

Author: Paganoni, Sabrina, Macklin, Eric A, Hendrix, Suzanne, Berry, James D, Elliott, Michael A, Maiser, Samuel, Karam, Chafic, Caress, James B, Owegi, Margaret A, Quick, Adam, Wymer, James, Goutman, Stephen A, Heitzman, Daragh, Heiman-Patterson, Terry, Jackson, Carlayne E, Quinn, Colin, Rothstein, Jeffrey D, Kasarskis, Edward J, Katz, Jonathan, Jenkins, Liberty, Ladha, Shafeeq, Miller, Timothy M, Scelsa, Stephen N, Vu, Tuan H, Fournier, Christina N, Glass, Jonathan D, Johnson, Kristin M, Swenson, Andrea, Goyal, Namita A, Pattee, Gary L, Andres, Patricia L, Babu, Suma, Chase, Marianne, Dagostino, Derek, Dickson, Samuel P, Ellison, Noel, Hall, Meghan, Hendrix, Kent, Kittle, Gale, McGovern, Michelle, Ostrow, Joseph, Pothier, Lindsay, Randall, Rebecca, Shefner, Jeremy M, Sherman, Alexander V, Tustison, Eric, Vigneswaran, Prasha, Walker, Jason, Yu, Hong, Chan, James, Wittes, Janet, Cohen, Joshua, Klee, Justin, Leslie, Kent, Tanzi, Rudolph E, Gilbert, Walter, Yeramian, Patrick D, Schoenfeld, David, and Cudkowicz, Merit E
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Neurodegenerative, Rare Diseases, Clinical Research, ALS, Brain Disorders, Neurosciences, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Aged, Amyotrophic Lateral Sclerosis, Disease Progression, Double-Blind Method, Drug Combinations, Female, Humans, Intention to Treat Analysis, Male, Middle Aged, Phenylbutyrates, Severity of Illness Index, Taurochenodeoxycholic Acid, Treatment Outcome, Medical and Health Sciences, General & Internal Medicine, Biomedical and clinical sciences, Health sciences
Abstract: BackgroundSodium phenylbutyrate and taurursodiol have been found to reduce neuronal death in experimental models. The efficacy and safety of a combination of the two compounds in persons with amyotrophic lateral sclerosis (ALS) are not known.MethodsIn this multicenter, randomized, double-blind trial, we enrolled participants with definite ALS who had had an onset of symptoms within the previous 18 months. Participants were randomly assigned in a 2:1 ratio to receive sodium phenylbutyrate-taurursodiol (3 g of sodium phenylbutyrate and 1 g of taurursodiol, administered once a day for 3 weeks and then twice a day) or placebo. The primary outcome was the rate of decline in the total score on the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R; range, 0 to 48, with higher scores indicating better function) through 24 weeks. Secondary outcomes were the rates of decline in isometric muscle strength, plasma phosphorylated axonal neurofilament H subunit levels, and the slow vital capacity; the time to death, tracheostomy, or permanent ventilation; and the time to death, tracheostomy, permanent ventilation, or hospitalization.ResultsA total of 177 persons with ALS were screened for eligibility, and 137 were randomly assigned to receive sodium phenylbutyrate-taurursodiol (89 participants) or placebo (48 participants). In a modified intention-to-treat analysis, the mean rate of change in the ALSFRS-R score was -1.24 points per month with the active drug and -1.66 points per month with placebo (difference, 0.42 points per month; 95% confidence interval, 0.03 to 0.81; P = 0.03). Secondary outcomes did not differ significantly between the two groups. Adverse events with the active drug were mainly gastrointestinal.ConclusionsSodium phenylbutyrate-taurursodiol resulted in slower functional decline than placebo as measured by the ALSFRS-R score over a period of 24 weeks. Secondary outcomes were not significantly different between the two groups. Longer and larger trials are necessary to evaluate the efficacy and safety of sodium phenylbutyrate-taurursodiol in persons with ALS. (Funded by Amylyx Pharmaceuticals and others; CENTAUR ClinicalTrials.gov number, NCT03127514.).
Published: 2020

7. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author: Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, and De Jager, Philip L.
Published: 2023
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8. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., Martinez, Elisa McGrath, Pollard, Harvey B., Sukumar, Gauthaman, Soltis, Anthony R., Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Kost, Jason, Scotter, Emma L., Kenna, Kevin P., Miller, Jack W., Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Rademakers, Rosa, van Blitterswijk, Marka, Boylan, Kevin B., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Jr., Shaw, Christopher E., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, H., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Arepalli, Sampath, Auluck, Pavan, Baloh, Robert H., Bowser, Robert, Brice, Alexis, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Corcia, Philippe, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Faghri, Faraz, Farren, Jennifer, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Goutman, Stephen A., Heiman-Patterson, Terry D., Hernandez, Dena G., Hoover, Ben, Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Sendtner, Michael, Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Den Bosch, Ludo, Zinman, Lorne, Albani, Diego, Borroni, Barbara, Padovani, Alessandro, Bruni, Amalia, Clarimon, Jordi, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Danek, Adrian, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Graff, Caroline, Chiang, Huei-Hsin, Khoshnood, Behzad, Öijerstedt, Linn, Morris, Christopher M., Nacmias, Benedetta, Sorbi, Sandro, Nielsen, Jorgen E., Hjermind, Lynne E., Novelli, Valeria, Puca, Annibale A., Pastor, Pau, Alvarez, Ignacio, Diez-Fairen, Monica, Aguilar, Miquel, Perneczky, Robert, Diehl-Schimd, Janine, Rossi, Mina, Ruiz, Agustin, Boada, Mercè, Hernández, Isabel, Moreno-Grau, Sonia, Schlachetzki, Johannes C., Aarsland, Dag, Albert, Marilyn S., Attems, Johannes, Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Besser, Lilah M., Bigio, Eileen H., Black, Sandra E., Boeve, Bradley F., Bohannan, Ryan C., Brett, Francesca, Brunetti, Maura, Caraway, Chad A., Palma, Jose-Alberto, Calvo, Andrea, Canosa, Antonio, Dickson, Dennis, Duyckaerts, Charles, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E., Floris, Gianluca, Foroud, Tatiana M., Fortea, Juan, Gan-Or, Ziv, Gentleman, Steve, Ghetti, Bernardino, Gibbs, Jesse Raphael, Goate, Alison, Goldstein, David, González-Aramburu, Isabel, Graff-Radford, Neill R., Hodges, Angela K., Hu, Heng-Chen, Hupalo, Daniel, Infante, Jon, Iranzo, Alex, Kaiser, Scott M., Kaufmann, Horacio, Keith, Julia, Kim, Ronald C., Klein, Gregory, Krüger, Rejko, Kukull, Walter, Kuzma, Amanda, Lage, Carmen, Lesage, Suzanne, Leverenz, James B., Logroscino, Giancarlo, Lopez, Grisel, Love, Seth, Mao, Qinwen, Marti, Maria Jose, Martinez-McGrath, Elisa, Masellis, Mario, Masliah, Eliezer, May, Patrick, McKeith, Ian, Mesulam, Marek-Marsel, Monuki, Edwin S., Newell, Kathy L., Norcliffe-Kaufmann, Lucy, Palmer, Laura, Perkins, Matthew, Pletnikova, Olga, Molina-Porcel, Laura, Reynolds, Regina H., Rodríguez-Rodríguez, Eloy, Rohrer, Jonathan D., Sanchez-Juan, Pascual, Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram, Sidransky, Ellen, Tayebi, Nahid, Thomas, Alan J., Tilley, Bension S., Walton, Ronald L., Woltjer, Randy, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Zecca, Chiara, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Shneider, Neil A., Fraenkel, Ernest, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Amar, Khaled, Archibald, Neil, Bandmann, Oliver, Capps, Erica, Church, Alistair, Coebergh, Jan, Costantini, Alyssa, Critchley, Peter, Ghosh, Boyd CP., Hu, Michele T.M., Kobylecki, Christopher, Leigh, P. Nigel, Mann, Carl, Massey, Luke A., Morris, Huw R., Nath, Uma, Pavese, Nicola, Paviour, Dominic, Sharma, Jagdish, Vaughan, Jenny, Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A., Stein, Thor D., Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S., Portley, Makayla K., Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, F.N.U., Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L., Johansson, Per M., Nilsson, Christer F., Rowe, James B., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D., Singleton, Andrew B., Silani, Vincenzo, Ross, Owen A., Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M., Pickering-Brown, Stuart, Brady, Christopher B., Kowal, Neil, Hardy, John A., Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matthew B., Ferrari, Raffaele, Landers, John E., Gibbs, J. Raphael, Dalgard, Clifton L., Scholz, Sonja W., and Traynor, Bryan J.
Published: 2021
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9. Health Care Delivery and Financial Considerations in Amyotrophic Lateral Sclerosis Clinics: A Survey of Clinic Directors.

Author: Hollin, Ilene L., Giler, Gema, and Heiman-Patterson, Terry D.
Published: 2025
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10. Augmented Reality Integrated Brain Computer Interface for Smart Home Control

Author: Sahal, Mohammad, Dryden, Emma, Halac, Mali, Feldman, Sara, Heiman-Patterson, Terry, Ayaz, Hasan, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Ayaz, Hasan, editor, Asgher, Umer, editor, and Paletta, Lucas, editor
Published: 2021
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11. Amyotrophic Lateral Sclerosis Disease Progression Presents Difficulties in Brain Computer Interface Use

Author: Dryden, Emma, Sahal, Mohammad, Feldman, Sara, Ayaz, Hasan, Heiman-Patterson, Terry, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Ayaz, Hasan, editor, Asgher, Umer, editor, and Paletta, Lucas, editor
Published: 2021
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12. An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients

Author: Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert H., Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Li, Jonathan, Lim, Ryan G., Kaye, Julia A., Dardov, Victoria, Coyne, Alyssa N., Wu, Jie, Milani, Pamela, Cheng, Andrew, Thompson, Terri G., Ornelas, Loren, Frank, Aaron, Adam, Miriam, Banuelos, Maria G., Casale, Malcolm, Cox, Veerle, Escalante-Chong, Renan, Daigle, J. Gavin, Gomez, Emilda, Hayes, Lindsey, Holewenski, Ronald, Lei, Susan, Lenail, Alex, Lima, Leandro, Mandefro, Berhan, Matlock, Andrea, Panther, Lindsay, Patel-Murray, Natasha Leanna, Pham, Jacqueline, Ramamoorthy, Divya, Sachs, Karen, Shelley, Brandon, Stocksdale, Jennifer, Trost, Hannah, Wilhelm, Mark, Venkatraman, Vidya, Wassie, Brook T., Wyman, Stacia, Yang, Stephanie, Van Eyk, Jennifer E., Lloyd, Thomas E., Finkbeiner, Steven, Rothstein, Jeffrey D., and Svendsen, Clive N.
Published: 2021
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13. ALSUntangled #74: Withania Somnifera (Ashwagandha).

Author: Jhooty, Sartaj, Barkhaus, Paul, Brown, Andrew, Mascias Cadavid, Javier, Carter, Gregory T., Crayle, Jesse, Heiman-Patterson, Terry, Li, Xiaoyan, Mallon, Elise, Mcdermott, Christopher, Mushannen, Tasnim, Pattee, Gary, Ratner, Dylan, Wicks, Paul, Wiedau, Martina, and Bedlack, Richard
Subjects: WITHANIA somnifera, OXIDATIVE stress, DISEASE progression, CLINICAL trials, ANIMAL models in research
Abstract: ALSUntangled reviews alternative and off-label treatments on behalf of people with ALS (PALS) who ask about them. Here, we review withania somnifera (WS) commonly known as ashwagandha or winter cherry. WS has plausible mechanisms for slowing ALS progression because of its effects on inflammation, oxidative stress, autophagy, mitochondrial function, and apoptosis. Preclinical trials demonstrate that WS slows disease progression in multiple different animal models of ALS. Of the five individuals we found who described using WS for their ALS, two individuals reported moderate benefit while none reported experiencing any significant side effects. There is currently one clinical trial using WS to treat PALS; the results are not yet published. There are no serious side effects associated with WS and the associated cost of this treatment is low. Based on the above information, WS appears to us to be a good candidate for future ALS trials. [ABSTRACT FROM AUTHOR]
Published: 2024
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14. CNS Summit 2024: Abstracts of Poster Presentations.

Author: Callender, Valerie, Heiman-Patterson, Terry, Furey, John, Feldman, Sarah, Bides, Zachary, Winniczek, Jaroslaw "Jerry", Conroy, Meghan, Brugada Ramentol, Victoria, Iulita, M. Florencia, Streel, Emmanuel, Fallone, Silvia, Ferrari, Alberto, Griffin, Nicholas, Lorenz, Sean, Sánchez Benavides, Gonzalo, Cañas, Alba, Minguillon, Carolina, Tarnanas, Ioannis, Jones, Marc, and Lagler, Michael
Subjects: DRUG therapy for schizophrenia, SUBSTANCE abuse prevention, PATIENT compliance, DRUNK driving, DRUGGED driving, HEALTH services accessibility, ALZHEIMER'S disease, MILD cognitive impairment, SUICIDAL ideation, PATIENT safety, DIVERSITY & inclusion policies, MULTIPLE sclerosis, PSYCHIATRY, ARTIFICIAL intelligence, INVESTIGATIONAL drugs, ELECTROENCEPHALOGRAPHY, EYE movement measurements, CLINICAL trials, NEUROSCIENCES, CONFERENCES & conventions, MOVEMENT disorders, NEAR infrared spectroscopy, FUNCTIONAL status, HALLUCINOGENIC drugs, AMYOTROPHIC lateral sclerosis, VIRTUAL reality, DEEP learning, DRUG efficacy, QUALITY of life, MACHINE learning, SPEECH disorders, DRUGS, DRUG development, BIOMARKERS, DISEASE progression, MENTAL depression, GENERALIZED anxiety disorder, SOCIAL anxiety, VIDEO recording, EVALUATION
Abstract: The article focuses on using artificial intelligence-enhanced visual biomarker discovery to monitor amyotrophic lateral sclerosis progression. Topics include the development of digital biomarkers for remote disease tracking, the application of artificial intelligence in analyzing motor tasks, and the potential for improving patient outcomes through precise, real-time data collection.
Published: 2024

15. Clinician Education Initiatives for General Neurologists on ALS: Why It Is Needed and ThinkALS, a Possible Solution (P5-11.008)

Author: Babu, Suma, primary, Yersak, Jill, additional, Krauss, Ramona, additional, Oskarsson, Bjorn, additional, Heiman-Patterson, Terry, additional, Lomen-Hoerth, Catherine, additional, Waldo, Dan, additional, Selig, Wendy, additional, Paul, Ilisa Halpern, additional, Dave, Kuldip, additional, and Thakur, Neil, additional
Published: 2024
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16. Characterizing Patient Preferences, Satisfaction, and Quality of Care Across Health Care Models in Amyotrophic Lateral Sclerosis (ALS) (P6-11.011)

Author: Hollin, Ilene, primary, Chisholm, Laura, additional, Gautam, Anudeeta, additional, Heiman-Patterson, Terry, additional, Pasinelli, Piera, additional, and Ilieva, Hristelina, additional
Published: 2024
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17. Primary Lateral Sclerosis and Early Upper Motor Neuron Disease

Author: Fournier, Christina N, Murphy, Alyssa, Loci, Lorena, Mitsumoto, Hiroshi, Lomen-Hoerth, Catherine, Kisanuki, Yasushi, Simmons, Zachary, Maragakis, Nicholas J, McVey, April L, Al-Lahham, Tawfiq, Heiman-Patterson, Terry D, Andrews, Jinsy, McDonnell, Erin, Cudkowicz, Merit, and Atassi, Nazem
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, ALS, Clinical Trials and Supportive Activities, Neurosciences, Neurodegenerative, Clinical Research, Rare Diseases, Brain Disorders, Autoimmune Disease, 7.3 Management and decision making, Management of diseases and conditions, Neurological, Aged, Cohort Studies, Cross-Sectional Studies, Electromyography, Female, Humans, Male, Middle Aged, Motor Neuron Disease, Severity of Illness Index, Neurology & Neurosurgery, Clinical sciences
Abstract: ObjectivesThe goals of this study were to characterize clinical and electrophysiologic findings of subjects with upper motor neuron disease and to explore feasibility of clinical trials in this population.MethodsTwenty northeast amyotrophic lateral sclerosis consortium (northeast amyotrophic lateral sclerosis) sites performed chart reviews to identify active clinical pure upper motor neuron disease patients. Patients with hereditary spastic paraplegia or meeting revised El Escorial electrodiagnostic criteria for amyotrophic lateral sclerosis were excluded. Patients were classified into 2 groups according to the presence or absence of minor electromyography (EMG) abnormalities.ResultsTwo hundred thirty-three subjects with upper motor neuron disease were identified; 217 had available EMG data. Normal EMGs were seen in 140 subjects, and 77 had minor denervation. Mean disease duration was 84 (±80) months for the entire cohort with no difference seen between the 2 groups. No difference was seen in clinical symptoms, disability, or outcome measures between the 2 groups after correcting for multiple comparisons.ConclusionsMinor EMG abnormalities were not associated with phenotypic differences in a clinical upper motor neuron disease population. These findings suggest that subtle EMG abnormalities can not necessarily be used as a prognostic tool in patients with clinical upper motor neuron disease. This study also demonstrates the availability of a large number of patients with upper motor neuron diseases within the northeast amyotrophic lateral sclerosis network and suggests feasibility for conducting clinical trials in this population.
Published: 2016

18. Postmortem Cortex Samples Identify Distinct Molecular Subtypes of ALS: Retrotransposon Activation, Oxidative Stress, and Activated Glia

Author: Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Simmons, Zachary, Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Shneider, Neil A., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Bowser, Robert, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Baloh, Robert, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent T., Tam, Oliver H., Rozhkov, Nikolay V., Shaw, Regina, Kim, Duyang, Hubbard, Isabel, Fennessey, Samantha, Propp, Nadia, Fagegaltier, Delphine, Ravits, John, Dubnau, Josh, and Gale Hammell, Molly
Published: 2019
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19. Intracerebral Hemorrhage in a Young Urban Population: Etiologies and Outcomes in Patients 50 and Younger

Author: Gedansky, Aron, Jarvis, Paul, Yu, Daohai, Lu, Xiaoning, Heiman-Patterson, Terry, and Linares, Guillermo
Published: 2019
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20. Hypercaloric enteral nutrition in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled phase 2 trial.

Author: Wills, Anne-Marie, Hubbard, Jane, Macklin, Eric, Glass, Jonathan, Tandan, Rup, Simpson, Ericka, Brooks, Benjamin, Gelinas, Deborah, Mitsumoto, Hiroshi, Hanes, Gregory, Ladha, Shafeeq, Heiman-Patterson, Terry, Katz, Jonathan, Lou, Jau-Shin, Mahoney, Katy, Grasso, Daniela, Lawson, Robert, Yu, Hong, Cudkowicz, Merit, and Mozaffar, Tahseen
Subjects: Adult, Aged, Amyotrophic Lateral Sclerosis, Cholesterol, Diet, High-Fat, Double-Blind Method, Energy Intake, Enteral Nutrition, Female, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Pilot Projects
Abstract: BACKGROUND: Amyotrophic lateral sclerosis is a fatal neurodegenerative disease with few therapeutic options. Mild obesity is associated with greater survival in patients with the disease, and calorie-dense diets increased survival in a mouse model. We aimed to assess the safety and tolerability of two hypercaloric diets in patients with amyotrophic lateral sclerosis receiving enteral nutrition. METHODS: In this double-blind, placebo-controlled, randomised phase 2 clinical trial, we enrolled adults with amyotrophic lateral sclerosis from participating centres in the USA. Eligible participants were aged 18 years or older with no history of diabetes or liver or cardiovascular disease, and who were already receiving percutaneous enteral nutrition. We randomly assigned participants (1:1:1) using a computer-generated list of random numbers to one of three dietary interventions: replacement calories using an isocaloric tube-fed diet (control), a high-carbohydrate hypercaloric tube-fed diet (HC/HC), or a high-fat hypercaloric tube-fed diet (HF/HC). Participants received the intervention diets for 4 months and were followed up for 5 months. The primary outcomes were safety and tolerability, analysed in all patients who began their study diet. This trial is registered with ClinicalTrials.gov, number NCT00983983. FINDINGS: Between Dec 14, 2009, and Nov 2, 2012, we enrolled 24 participants, of whom 20 started their study diet (six in the control group, eight in the HC/HC group, and six in the HF/HC group). One patient in the control group, one in the HC/HC group, and two in the HF/HC group withdrew consent before receiving the intervention. Participants who received the HC/HC diet had a smaller total number of adverse events than did those in the other groups (23 in the HC/HC group vs 42 in the control group vs 48 in the HF/HC group; overall, p=0.06; HC/HC vs control, p=0.06) and significantly fewer serious adverse events than did those on the control diet (none vs nine; p=0.0005). Fewer patients in the HC/HC group discontinued their study diet due to adverse events (none [0%] of eight in the HC/HC group vs three [50%] of six in the control group). During the 5 month follow-up, no deaths occurred in the nine patients assigned to the HC/HC diet compared with three deaths (43%) in the seven patients assigned to the control diet (log-rank p=0.03). Adverse events, tolerability, deaths, and disease progression did not differ significantly between the HF/HC group and the control group. INTERPRETATION: Our results provide preliminary evidence that hypercaloric enteral nutrition is safe and tolerable in patients with amyotrophic lateral sclerosis, and support the study of nutritional interventions in larger randomised controlled trials at earlier stages of the disease. FUNDING: Muscular Dystrophy Association, National Center for Research Resources, National Institutes of Health, and Harvard NeuroDiscovery Center.
Published: 2014

21. ALSUntangled #75: Portable neuromodulation stimulator therapy.

Author: Officer, Laurel, Armon, Carmel, Barkhaus, Paul, Beauchamp, Morgan, Benatar, Michael, Bertorini, Tulio, Bowser, Robert, Bromberg, Mark, Brown, Andrew, Carbunar, Olimpia Mihaela, Carter, Gregory T., Crayle, Jesse, Denson, Keelie, Feldman, Eva, Fullam, Timothy, Heiman-Patterson, Terry, Jackson, Carlayne, Jhooty, Sartaj, Levinson, Danelle, and Li, Xiaoyan
Subjects: NEUROMODULATION, AMYOTROPHIC lateral sclerosis, BRAIN injuries, FACIAL nerve, TRIGEMINAL nerve
Abstract: Spurred by patient interest, ALSUntangled herein examines the potential of the Portable Neuromodulation Stimulator (PoNS™) in treating amyotrophic lateral sclerosis (ALS). The PoNS™ device, FDA-approved for the treatment of gait deficits in adult patients with multiple sclerosis, utilizes translingual neurostimulation to stimulate trigeminal and facial nerves via the tongue, aiming to induce neuroplastic changes. While there are early, promising data for PoNS treatment to improve gait and balance in multiple sclerosis, stroke, and traumatic brain injury, no pre-clinical or clinical studies have been performed in ALS. Although reasonably safe, high costs and prescription requirements will limit PoNS accessibility. At this time, due to the lack of ALS-relevant data, we cannot endorse the use of PoNS as an ALS treatment. [ABSTRACT FROM AUTHOR]
Published: 2024
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22. Categorization of the amyotrophic lateral sclerosis population via the clinical determinant of post‐onset ΔFS for study design and medical practice.

Author: Ludolph, Albert C., Corcia, Philippe, Desnuelle, Claude, Heiman‐Patterson, Terry, Mora, Jesus S., Mansfield, Colin D., and Couratier, Philippe
Abstract: The amyotrophic lateral sclerosis (ALS) functional rating scale‐revised (ALSFRS‐R) has become the most widely utilized measure of disease severity in patients with ALS, with change in ALSFRS‐R from baseline being a trusted primary outcome measure in ALS clinical trials. This is despite the scale having several established limitations, and although alternative scales have been proposed, it is unlikely that these will displace ALSFRS‐R in the foreseeable future. Here, we discuss the merits of delta FS (ΔFS), the slope or rate of ALSFRS‐R decline over time, as a relevant tool for innovative ALS study design, with an as yet untapped potential for optimization of drug effectiveness and patient management. In our view, categorization of the ALS population via the clinical determinant of post‐onset ΔFS is an important study design consideration. It serves not only as a critical stratification factor and basis for patient enrichment but also as a tool to explore differences in treatment response across the overall population; thereby, facilitating identification of responder subgroups. Moreover, because post‐onset ΔFS is derived from information routinely collected as part of standard patient care and monitoring, it provides a suitable patient selection tool for treating physicians. Overall, post‐onset ΔFS is a very attractive enrichment tool that is, can and should be regularly incorporated into ALS trial design. [ABSTRACT FROM AUTHOR]
Published: 2024
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23. Amyotrophic Lateral Sclerosis Disease Progression Presents Difficulties in Brain Computer Interface Use

Author: Dryden, Emma, primary, Sahal, Mohammad, additional, Feldman, Sara, additional, Ayaz, Hasan, additional, and Heiman-Patterson, Terry, additional
Published: 2021
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24. Augmented Reality Integrated Brain Computer Interface for Smart Home Control

Author: Sahal, Mohammad, primary, Dryden, Emma, additional, Halac, Mali, additional, Feldman, Sara, additional, Heiman-Patterson, Terry, additional, and Ayaz, Hasan, additional
Published: 2021
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25. ALSUntangled #72: Insulin

Author: Brown, Andrew, primary, Armon, Carmel, additional, Barkhaus, Paul, additional, Beauchamp, Morgan, additional, Bertorini, Tulio, additional, Bromberg, Mark, additional, Cadavid, Javier Mascias, additional, Carter, Gregory T., additional, Crayle, Jesse, additional, Feldman, Eva L., additional, Heiman-Patterson, Terry, additional, Jhooty, Sartaj, additional, Linares, Alexandra, additional, Li, Xiaoyan, additional, Mallon, Elise, additional, Mcdermott, Christopher, additional, Mushannen, Tasnim, additional, Nathaniel, George, additional, Pattee, Gary, additional, Pierce, Kaitlyn, additional, Rappoport, Ari, additional, Ratner, Dylan, additional, Slactova, Lenka, additional, Wicks, Paul, additional, and Bedlack, Richard, additional
Published: 2023
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26. Multidisciplinary Clinics in Neuromuscular Medicine

Author: Gwathmey, Kelly, primary and Heiman-Patterson, Terry D., additional
Published: 2023
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27. ALSUntangled #72: Insulin.

Author: Brown, Andrew, Armon, Carmel, Barkhaus, Paul, Beauchamp, Morgan, Bertorini, Tulio, Bromberg, Mark, Cadavid, Javier Mascias, Carter, Gregory T., Crayle, Jesse, Feldman, Eva L., Heiman-Patterson, Terry, Jhooty, Sartaj, Linares, Alexandra, Li, Xiaoyan, Mallon, Elise, Mcdermott, Christopher, Mushannen, Tasnim, Nathaniel, George, Pattee, Gary, and Pierce, Kaitlyn
Subjects: AMYOTROPHIC lateral sclerosis, INSULIN, INSULIN therapy
Abstract: ALSUntangled reviews alternative and off-label treatments for people living with amyotrophic lateral sclerosis (PALS). Here we review insulin, which has at least one plausible mechanism for slowing ALS progression. However, pre-clinical studies are limited and there have been no trials in PALS yet. Insulin use in patients without a metabolic need may cause very serious and potentially lethal side effects. While further studies to evaluate potential benefits may be warranted, at this time we cannot endorse insulin treatment to slow ALS progression. [ABSTRACT FROM AUTHOR]
Published: 2024
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28. List of Contributors

Author: Agbangla, Nounagnon F., primary, Agrali, Atahan, additional, Albinet, Cédric T., additional, Aljuaid, Awad, additional, Andéol, Guillaume, additional, André, Jean M., additional, Aricò, Pietro, additional, Arnaud, Branthomme, additional, Artico, Romain, additional, Audiffren, Michel, additional, Ayaz, Hasan, additional, Babiloni, Fabio, additional, Baccus, Wendy, additional, Baldwin, Carryl L., additional, Banville, Hubert, additional, Bengler, Klaus, additional, Berberian, Bruno, additional, Bergeron-Boucher, Jérémy, additional, Berkol, Ali, additional, Besson, Pierre, additional, Bhatt, Siddharth, additional, Bichicchi, Arianna, additional, Bijlsma, Martijn, additional, Bode, Nikolai W.F., additional, Bonnemains, Vincent, additional, Borghini, Gianluca, additional, Borragán, Guillermo, additional, Bouchard, Marc-André, additional, Bovo, Angela, additional, Brangier, Eric, additional, Brouwer, Anne-Marie, additional, Bülthoff, Heinrich H., additional, Burns, Christopher, additional, Cabibel, Vincent, additional, Çakar, Tuna E., additional, Callan, Daniel, additional, Campagne, Aurélie, additional, Carlson, Travis, additional, Casebeer, William D., additional, Çelik, Deniz Zengin, additional, Chamberland, Cindy, additional, Chanel, Caroline P.C., additional, Chapman, Peter, additional, Chatty, Luc, additional, Chaudron, Laurent, additional, Chevrel, Philippe, additional, Chuang, Lewis L., additional, Cinel, Caterina, additional, Claverie, Bernard, additional, Conti, Antonia S., additional, Corson, Yves, additional, Crépeau, Johnathan, additional, Curtin, Adrian, additional, Dehais, Frédéric, additional, Delafontaine, Arnaud, additional, Deliens, Gaétane, additional, Delorme, Arnaud, additional, Di Domenico, Stefano I., additional, Di Flumeri, Gianluca, additional, Diverrez, Jean-Marc, additional, Do, Manh-Cuong, additional, Dong, Mengxi, additional, Duchowski, Andrew T., additional, Dutta, Anirban, additional, Dyer, Lydia, additional, Em, Sonia, additional, Ewing, Kate, additional, Fairclough, Stephen, additional, Falcone, Brian, additional, Falk, Tiago H., additional, Feldman, Sara, additional, Feng, Ying Xing, additional, Finomore, Victor S., additional, Flad, Nina, additional, Formwalt, Alice, additional, Fort, Alexandra, additional, Fourcade, Paul, additional, Fournier, Marc A., additional, Frey, Jérémy, additional, Gabaude, C., additional, Gagey, Olivier, additional, Garbey, Marc, additional, Garcia, Liliana, additional, Gateau, Thibault, additional, Gehrke, Lukas, additional, Getchell, Nancy, additional, Giagloglou, Evanthia, additional, Glatz, Christiane, additional, Goodyear, Kimberly, additional, Gougelet, Robert J., additional, Gouraud, Jonas, additional, Gramann, Klaus, additional, Grewal, Dhruv, additional, Guerrero-Mosquera, Carlos, additional, Guillaume, Céline, additional, Hachet, Martin, additional, Hamaoui, Alain, additional, Hancock, Gabriella M., additional, Hancock, Peter A., additional, Hani, Ahmad Fadzil M., additional, Harwood, Amanda E., additional, Hayashibe, Mitsuhiro, additional, Heiman-Patterson, Terry, additional, Hervé, Girod, additional, Hogervorst, Maarten A.J., additional, Holloway, Amy L., additional, Honeine, Jean-Louis, additional, Hong, Keum-Shik, additional, Ihme, Klas, additional, Izzetoglu, Kurtulus, additional, Izzetoglu, Meltem, additional, Jackson, Philip L., additional, Jallais, Christophe, additional, Janssen, Christian P., additional, Jeremic, Branislav, additional, Jipp, Meike, additional, Jungnickel, Evelyn, additional, Kadogami, Hélio, additional, Kara, Gozde, additional, Karwowski, Waldemar, additional, Kennedy, Quinn, additional, Kessler, Theresa T., additional, Khan, Muhammad J., additional, Khan, Rayyan A., additional, Klug, Marius, additional, Kraft, Amanda E., additional, Krein, Michael, additional, Kreplin, Ute, additional, Kroczek, Bartlomiej, additional, Krol, Lauens R., additional, Krueger, Frank, additional, Labaune, Ombeline, additional, Lafond, Daniel, additional, Lantieri, Claudio, additional, Lanzi, Paola, additional, Laouar, Amine, additional, Lauren, Dargent, additional, Leproult, Rachel, additional, Lespinet-Najib, Véronique, additional, Liang, Ling-Yin, additional, Lotte, Fabien, additional, Macuzic, Ivan, additional, Maille, Nicolas, additional, Maior, Horia A, additional, Malin, S., additional, Marois, Alexandre, additional, Mars, Franck, additional, Martin, Nicolas, additional, Matton, Nadine, additional, Matyjek, Magdalena, additional, McCarthy, Kevin, additional, McKendrick, Ryan, additional, McWilliams, Tom, additional, Mehler, Bruce, additional, Mehta, Ranjana, additional, Mehta, Ranjana K., additional, Menoret, Mathilde, additional, Miyake, Yoshihiro, additional, Moly, Alexandre, additional, Murtza, Rabia, additional, Muthalib, Makii, additional, Muthalib, Mark, additional, Naseer, Noman, additional, Navarro, Jordan, additional, Newport, Roger, additional, Nijholt, Anton, additional, Ociepka, Michal, additional, Olivier, Morellec, additional, Omurtag, Ahmet, additional, Onaral, Banu, additional, Ora, Hiroki, additional, Oudejans, Bob, additional, Öztürk, Özgürol, additional, Paczynski, Martin, additional, Pallamin, Nico, additional, Parasuraman, Raja, additional, Parent, Mark, additional, Patesson, René, additional, Paul, Kou, additional, Peigneux, Philippe, additional, Peissner, Matthias, additional, Pepin, G., additional, Perrey, Stephane, additional, Peysakhovich, Vsevolod, additional, Plank, Markus, additional, Poli, Riccardo, additional, Pollmann, Kathrin, additional, Pozzi, Simone, additional, Puccinelli, Nancy M., additional, Pylouster, Jean, additional, Rızvanoğlu, Kerem, additional, Ragot, Martin, additional, Reimer, Bryan, additional, Reynaud, Emanuelle, additional, Rhee, Joohyun, additional, Rieger, Jochem W., additional, Ries, Anthony J., additional, Roberge-Vallières, Benoit, additional, Rodrigo, Achala H., additional, Roggeveen, Anne L., additional, Ron-Angevin, Ricardo, additional, Roumy, Guillaume, additional, Roy, Raphaëlle N., additional, Ruocco, Anthony C., additional, Russell, Bartlett A., additional, Russo, Jon, additional, Ryan, Richard M., additional, Sargent, Amanda, additional, Satterfield, Kelly, additional, Sawyer, Ben D., additional, Scannella, Sébastien, additional, Scheer, Menja, additional, Scheldrup, Melissa, additional, Schilder, Alex, additional, Sciaraffa, Nicolina, additional, Sciarini, Lee, additional, Senderecka, Magdalena, additional, Sharples, Sarah, additional, Shaw, Tyler H., additional, Shewokis, Patricia A., additional, Simone, Andrea, additional, Slama, Hichem, additional, Smith, Alastair D., additional, Somon, Bertille, additional, Souissi, Hiba, additional, Späth, Moritz, additional, Stowers, Kimberly L., additional, Suied, Clara, additional, Sun, Junfeng, additional, Suri, Rajnesh, additional, Tang, Tong Boon, additional, Tang, Yingying, additional, Tartan, Emre O., additional, Tebbache, Nadège, additional, Techer, Franck, additional, Terzibas, Cengiz, additional, Tessier, Catherine, additional, Teyssedre, Claudine, additional, Thair, Hayley, additional, Thériault, Jean-Denis, additional, Toet, Alexander, additional, Tong, Shanbao, additional, Touryan, Jonathan, additional, Trask, Amy, additional, Tremblay, Sébastien, additional, Unni, Anirudh, additional, Vachon, François, additional, Valeriani, Davide, additional, Valéry, Benoît, additional, van den Berg, Helma, additional, Vignali, Valeria, additional, Vukelić, Mathias, additional, Wang, Jijun, additional, Wilson, Max L., additional, Wusch, Emily, additional, Xanthopoulos, Petros, additional, Yiou, Eric, additional, Zafar, Amad, additional, Zander, Thorsten O., additional, Ziegler, Matthias D., additional, and Živanovic-Macuzic, Ivana, additional
Published: 2019
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29. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Luxembourg Institute of Health - LIH [research center], Fonds National de la Recherche - FnR [sponsor], Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Masellis, Mario, Keith, Julia, Black, Sandra E., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M., Ghetti, Bernardino, Landers, John E., Ryten, Mina, Morris, Huw R., Hardy, John A., Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E., Beach, Thomas G., Ferman, Tanis, Graff-Radford, Neill R., Boeve, Bradley F., Wszolek, Zbigniew K., Dickson, Dennis W., Chiò, Adriano, Bennett, David A., De Jager, Philip L., Ross, Owen A., Dalgard, Clifton L., Gibbs, J. Raphael, Traynor, Bryan J., Scholz, Sonja W., Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Rejko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Palmer, Laura, Pickering-Brown, Stuart, Thomas, Alan J., Troakes, Claire, Barrett, Matthew J., Bekris, Lynn M., Faber, Kelley, Flanagan, Margaret E., Goate, Alison, Goldstein, David S., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Renton, Alan E., Scherzer, Clemens R., Shakkottai, Vikram G., Sidransky, Ellen, Tayebi, Nahid, Woltjer, Randy, Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group) [research center], Luxembourg Institute of Health - LIH [research center], Fonds National de la Recherche - FnR [sponsor], Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Dawson, Ted M., Rosenthal, Liana S., Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Masellis, Mario, Keith, Julia, Black, Sandra E., Ferrucci, Luigi, Resnick, Susan M., Tanaka, Toshiko, Topol, Eric, Torkamani, Ali, Tienari, Pentti, Foroud, Tatiana M., Ghetti, Bernardino, Landers, John E., Ryten, Mina, Morris, Huw R., Hardy, John A., Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, Calvo, Andrea, Serrano, Geidy E., Beach, Thomas G., Ferman, Tanis, Graff-Radford, Neill R., Boeve, Bradley F., Wszolek, Zbigniew K., Dickson, Dennis W., Chiò, Adriano, Bennett, David A., De Jager, Philip L., Ross, Owen A., Dalgard, Clifton L., Gibbs, J. Raphael, Traynor, Bryan J., Scholz, Sonja W., Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Rejko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Palmer, Laura, Pickering-Brown, Stuart, Thomas, Alan J., Troakes, Claire, Barrett, Matthew J., Bekris, Lynn M., Faber, Kelley, Flanagan, Margaret E., Goate, Alison, Goldstein, David S., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Renton, Alan E., Scherzer, Clemens R., Shakkottai, Vikram G., Sidransky, Ellen, Tayebi, Nahid, Woltjer, Randy, Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, and Zinman, Lorne
Abstract: We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.
Published: 2023

30. Courage-als: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success

Author: Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Shefner, Jeremy M, Al-Chalabi, Ammar, Andrews, Jinsy A, Chio, Adriano, De Carvalho, Mamede, Cockroft, Bettina M, Corcia, Philippe, Couratier, Philippe, Cudkowicz, Merit E, Genge, Angela, Hardiman, Orla, Heiman-Patterson, Terry, Henderson, Robert D, Ingre, Caroline, Jackson, Carlayne E, Johnston, Wendy, Lechtzin, Noah, Ludolph, Albert, Maragakis, Nicholas J, Miller, Timothy M, Mora Pardina, Jesus S, Petri, Susanne, Simmons, Zachary, Van Den Berg, Leonard H, Zinman, Lorne, Kupfer, Stuart, Malik, Fady I, Meng, Lisa, Simkins, Tyrell J, Wei, Jenny, Wolff, Andrew A, Rudnicki, Stacy A, Neurologen, Projectafdeling ALS, Brain, Regenerative Medicine and Stem Cells, Shefner, Jeremy M, Al-Chalabi, Ammar, Andrews, Jinsy A, Chio, Adriano, De Carvalho, Mamede, Cockroft, Bettina M, Corcia, Philippe, Couratier, Philippe, Cudkowicz, Merit E, Genge, Angela, Hardiman, Orla, Heiman-Patterson, Terry, Henderson, Robert D, Ingre, Caroline, Jackson, Carlayne E, Johnston, Wendy, Lechtzin, Noah, Ludolph, Albert, Maragakis, Nicholas J, Miller, Timothy M, Mora Pardina, Jesus S, Petri, Susanne, Simmons, Zachary, Van Den Berg, Leonard H, Zinman, Lorne, Kupfer, Stuart, Malik, Fady I, Meng, Lisa, Simkins, Tyrell J, Wei, Jenny, Wolff, Andrew A, and Rudnicki, Stacy A
Published: 2023

31. ALSUntangled #70: caffeine

Author: Hatch, Jessica, primary, Barkhaus, Paul, additional, Barnes, Benjamin, additional, Beauchamp, Morgan, additional, Benatar, Michael, additional, Bertorini, Tulio, additional, Bowser, Robert, additional, Bromberg, Mark, additional, Brown, Andrew, additional, Mascias Cadavid, Javier, additional, Carter, Gregory T., additional, Cole, Nicholas, additional, Crayle, Jesse, additional, Dimachkie, Mazen, additional, Ennist, David, additional, Feldman, Eva, additional, Fullam, Timothy, additional, Heiman-Patterson, Terry, additional, Jhooty, Sartaj, additional, Levine, Todd, additional, Li, Xiaoyan, additional, Lund, Isaac, additional, Mallon, Elise, additional, Maragakis, Nicholas, additional, McDermott, Christopher, additional, Pattee, Gary, additional, Pierce, Kaitlyn, additional, Ratner, Dylan, additional, Staats, Kim, additional, Wicks, Paul, additional, Wiedau, Martina, additional, and Bedlack, Richard, additional
Published: 2023
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32. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Author: Kaivola, Karri, primary, Chia, Ruth, additional, Ding, Jinhui, additional, Rasheed, Memoona, additional, Fujita, Masashi, additional, Menon, Vilas, additional, Walton, Ronald L., additional, Collins, Ryan L., additional, Billingsley, Kimberley, additional, Brand, Harrison, additional, Talkowski, Michael, additional, Zhao, Xuefang, additional, Dewan, Ramita, additional, Stark, Ali, additional, Ray, Anindita, additional, Solaiman, Sultana, additional, Alvarez Jerez, Pilar, additional, Malik, Laksh, additional, Dawson, Ted M., additional, Rosenthal, Liana S., additional, Albert, Marilyn S., additional, Pletnikova, Olga, additional, Troncoso, Juan C., additional, Masellis, Mario, additional, Keith, Julia, additional, Black, Sandra E., additional, Ferrucci, Luigi, additional, Resnick, Susan M., additional, Tanaka, Toshiko, additional, Topol, Eric, additional, Torkamani, Ali, additional, Tienari, Pentti, additional, Foroud, Tatiana M., additional, Ghetti, Bernardino, additional, Landers, John E., additional, Ryten, Mina, additional, Morris, Huw R., additional, Hardy, John A., additional, Mazzini, Letizia, additional, D'Alfonso, Sandra, additional, Moglia, Cristina, additional, Calvo, Andrea, additional, Serrano, Geidy E., additional, Beach, Thomas G., additional, Ferman, Tanis, additional, Graff-Radford, Neill R., additional, Boeve, Bradley F., additional, Wszolek, Zbigniew K., additional, Dickson, Dennis W., additional, Chiò, Adriano, additional, Bennett, David A., additional, De Jager, Philip L., additional, Ross, Owen A., additional, Dalgard, Clifton L., additional, Gibbs, J. Raphael, additional, Traynor, Bryan J., additional, Scholz, Sonja W., additional, Soltis, Anthony R., additional, Viollet, Coralie, additional, Sukumar, Gauthaman, additional, Alba, Camille, additional, Lott, Nathaniel, additional, McGrath Martinez, Elisa, additional, Tuck, Meila, additional, Singh, Jatinder, additional, Bacikova, Dagmar, additional, Zhang, Xijun, additional, Hupalo, Daniel N., additional, Adeleye, Adelani, additional, Wilkerson, Matthew D., additional, Pollard, Harvey B., additional, Gan-Or, Ziv, additional, Rogaeva, Ekaterina, additional, Brice, Alexis, additional, Lesage, Suzanne, additional, Xiromerisiou, Georgia, additional, Canosa, Antonio, additional, Chio, Adriano, additional, Logroscino, Giancarlo, additional, Mora, Gabriele, additional, Krüger, Reijko, additional, May, Patrick, additional, Alcolea, Daniel, additional, Clarimon, Jordi, additional, Fortea, Juan, additional, Gonzalez-Aramburu, Isabel, additional, Infante, Jon, additional, Lage, Carmen, additional, Lleó, Alberto, additional, Pastor, Pau, additional, Sanchez-Juan, Pascual, additional, Brett, Francesca, additional, Aarsland, Dag, additional, Al-Sarraj, Safa, additional, Attems, Johannes, additional, Gentleman, Steve, additional, Hodges, Angela K., additional, Love, Seth, additional, McKeith, Ian G., additional, Morris, Christopher M., additional, Palmer, Laura, additional, Pickering-Brown, Stuart, additional, Thomas, Alan J., additional, Troakes, Claire, additional, Barrett, Matthew J., additional, Bekris, Lynn M., additional, Faber, Kelley, additional, Flanagan, Margaret E., additional, Goate, Alison, additional, Goldstein, David S., additional, Kaufmann, Horacio, additional, Kukull, Walter A., additional, Leverenz, James B., additional, Lopez, Grisel, additional, Mao, Qinwen, additional, Masliah, Eliezer, additional, Monuki, Edwin, additional, Newell, Kathy L., additional, Palma, Jose-Alberto, additional, Perkins, Matthew, additional, Renton, Alan E., additional, Scherzer, Clemens R., additional, Shakkottai, Vikram G., additional, Sidransky, Ellen, additional, Tayebi, Nahid, additional, Woltjer, Randy, additional, Baloh, Robert H., additional, Bowser, Robert, additional, Broach, James, additional, Camu, William, additional, Cooper-Knock, John, additional, Drepper, Carsten, additional, Drory, Vivian E., additional, Dunckley, Travis L., additional, Feldman, Eva, additional, Fratta, Pietro, additional, Gerhard, Glenn, additional, Gibson, Summer B., additional, Glass, Jonathan D., additional, Harms, Matthew B., additional, Heiman-Patterson, Terry D., additional, Jansson, Lilja, additional, Kirby, Janine, additional, Kwan, Justin, additional, Laaksovirta, Hannu, additional, Landi, Francesco, additional, Le Ber, Isabelle, additional, Lumbroso, Serge, additional, MacGowan, Daniel J.L., additional, Maragakis, Nicholas J., additional, Mouzat, Kevin, additional, Myllykangas, Liisa, additional, Orrell, Richard W., additional, Ostrow, Lyle W., additional, Pamphlett, Roger, additional, Pioro, Erik, additional, Pulst, Stefan M., additional, Ravits, John M., additional, Robberecht, Wim, additional, Rothstein, Jeffrey D., additional, Sendtner, Michael, additional, Shaw, Pamela J., additional, Sidle, Katie C., additional, Simmons, Zachary, additional, Stein, Thor, additional, Stone, David J., additional, Tienari, Pentti J., additional, Valori, Miko, additional, Van Damme, Philip, additional, Van Deerlin, Vivianna M., additional, Van Den Bosch, Ludo, additional, and Zinman, Lorne, additional
Published: 2023
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33. COURAGE-ALS: a randomized, double-blind phase 3 study designed to improve participant experience and increase the probability of success

Author: Shefner, Jeremy M., primary, Al-Chalabi, Ammar, additional, Andrews, Jinsy A., additional, Chio, Adriano, additional, De Carvalho, Mamede, additional, Cockroft, Bettina M., additional, Corcia, Philippe, additional, Couratier, Philippe, additional, Cudkowicz, Merit E., additional, Genge, Angela, additional, Hardiman, Orla, additional, Heiman-Patterson, Terry, additional, Henderson, Robert D., additional, Ingre, Caroline, additional, Jackson, Carlayne E., additional, Johnston, Wendy, additional, Lechtzin, Noah, additional, Ludolph, Albert, additional, Maragakis, Nicholas J., additional, Miller, Timothy M., additional, Mora Pardina, Jesus S., additional, Petri, Susanne, additional, Simmons, Zachary, additional, Van Den Berg, Leonard H., additional, Zinman, Lorne, additional, Kupfer, Stuart, additional, Malik, Fady I., additional, Meng, Lisa, additional, Simkins, Tyrell J., additional, Wei, Jenny, additional, Wolff, Andrew A., additional, and Rudnicki, Stacy A., additional
Published: 2023
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34. Evaluation of Gastrointestinal Symptoms in an ALS Cohort (P10-8.007)

Author: Empeno, Rizamarie, primary, Furey, John, additional, and Heiman-Patterson, Terry, additional
Published: 2023
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35. A Review of Economic Studies of Amyotrophic Lateral Sclerosis (ALS) in the United States (P3-8.015)

Author: Gautam, Anudeeta, primary, Hollin, Ilene, additional, and Heiman-Patterson, Terry, additional
Published: 2023
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36. Exposure to hazardous air pollutants and the risk of amyotrophic lateral sclerosis

Author: Malek, Angela M., Barchowsky, Aaron, Bowser, Robert, Heiman-Patterson, Terry, Lacomis, David, Rana, Sandeep, Ada Youk, and Talbott, Evelyn O.
Published: 2015
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37. Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review

Author: Berry, James D., Blanchard, Marie, Bonar, Kerina, Drane, Emma, Murton, Molly, Ploug, Uffe, Ricchetti-Masterson, Kristen, Savic, Natasa, Worthington, Emma, and Heiman-Patterson, Terry
Subjects: Neurology, Neurology (clinical)
Abstract: Objective: This review sought to gain a comprehensive, up-to-date understanding of the epidemiology and cost and healthcare resource use (HCRU) burden of amyotrophic lateral sclerosis (ALS) in the US, at a patient and national level. Methods: A targeted literature review (TLR) to identify epidemiological evidence (prevalence, incidence, mortality, survival), and systematic literature review (SLR) to identify cost and HCRU data published since January 2016, were performed. MEDLINE databases and Embase searches were conducted in January 2021. Key congresses (2019–2020) and bibliographies of relevant SLRs were hand-searched. Two high-quality SLRs were reviewed for additional cost data published between January 2001–2015. Registry and database studies were prioritized for epidemiological evidence. To allow comparison between studies in this publication, only evidence from the US was considered, with costs inflated to the 2020/2021 cost-year and converted to US dollars. Results: Eight studies from the epidemiology TLR, and eighteen from the cost and HCRU SLR, were extracted. Reported ALS incidence in the US was ∼1.5 per 100,000 person-years, and point prevalence ranged from 3.84–5.56 per 100,000 population. Total US national costs spanned ∼$212 million-∼$1.4 billion USD/year, and variably consisted of direct costs associated with HCRU and indirect costs. Conclusions: The national cost of ∼$1.02 billion USD/year (estimated using a prevalence of 16,055 cases) best aligns with prevalence estimates found in the TLR (equating to ∼13,000–18,000 cases). However, large-scale, population-based studies are necessary to precisely assess US epidemiology of ALS and capture all costs needed to inform cost-effectiveness models and resource planning.
Published: 2023
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38. Epidemiology and economic burden of amyotrophic lateral sclerosis in the United States: a literature review

Author: Berry, James D., primary, Blanchard, Marie, additional, Bonar, Kerina, additional, Drane, Emma, additional, Murton, Molly, additional, Ploug, Uffe, additional, Ricchetti-Masterson, Kristen, additional, Savic, Natasa, additional, Worthington, Emma, additional, and Heiman-Patterson, Terry, additional
Published: 2023
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39. ALSUntangled # 69: astaxanthin

Author: Fullam, Timothy, primary, Armon, Carmel, additional, Barkhaus, Paul, additional, Barnes, Benjamin, additional, Beauchamp, Morgan, additional, Benatar, Michael, additional, Bertorini, Tulio, additional, Bowser, Robert, additional, Bromberg, Mark, additional, Mascias Cadavid, Javier, additional, Carter, Gregory T., additional, Dimachkie, Mazen, additional, Ennist, Dave, additional, Feldman, Eva L., additional, Heiman-patterson, Terry, additional, Jhooty, Sartaj, additional, Lund, Isaac, additional, Mcdermott, Christopher, additional, Pattee, Gary, additional, Ratner, Dylan, additional, Wicks, Paul, additional, and Bedlack, Richard, additional
Published: 2023
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40. Mental Fatigue Assessment in Prolonged BCI Use Through EEG and fNIRS

Author: Sargent, Amanda, primary, Heiman-Patterson, Terry, additional, Feldman, Sara, additional, Shewokis, Patricia A., additional, and Ayaz, Hasan, additional
Published: 2018
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41. The natural history of ALS: Baseline characteristics from a multicenter clinical cohort.

Author: Berger, Alex, Locatelli, Matteo, Arcila-Londono, Ximena, Hayat, Ghazala, Olney, Nicholas, Wymer, James, Gwathmey, Kelly, Lunetta, Christian, Heiman-Patterson, Terry, Ajroud-Driss, Senda, Macklin, Eric A., Bind, Marie-Abèle, Goslin, Kimberly, Stuchiner, Tamela, Brown, Lauren, Bazan, Tracy, Regan, Tyler, Adamo, Ashley, Ferment, Valerie, and Schroeder, Carly
Subjects: NATURAL history, AMYOTROPHIC lateral sclerosis, ELECTRONIC health records, OLDER patients, EXPERIMENTAL design
Abstract: Amyotrophic lateral sclerosis (ALS) is a rare disease with urgent need for improved treatment. Despite the acceleration of research in recent years, there is a need to understand the full natural history of the disease. As only 40% of people living with ALS are eligible for typical clinical trials, clinical trial datasets may not generalize to the full ALS population. While biomarker and cohort studies have more generous inclusion criteria, these too may not represent the full range of phenotypes, particularly if the burden for participation is high. To permit a complete understanding of the heterogeneity of ALS, comprehensive data on the full range of people with ALS is needed. The ALS Natural History Consortium (ALS NHC) consists of nine ALS clinics and was created to build a comprehensive dataset reflective of the ALS population. At each clinic, most patients are asked to participate and about 95% do. After obtaining consent, a minimum dataset is abstracted from each participant's electronic health record. Participant burden is therefore minimal. Data on 1925 ALS patients were submitted as of 9 December 2022. ALS NHC participants were more heterogeneous relative to anonymized clinical trial data from the Pooled Resource Open-Access ALS Clinical Trials (PRO-ACT) database. The ALS NHC includes ALS patients of older age of onset and a broader distribution of El Escorial categories, than the PRO-ACT database. ALS NHC participants had a higher diversity of diagnostic and demographic data compared to ALS clinical trial participants. What is already known on this topic: Current knowledge of the natural history of ALS derives largely from regional and national registries that have broad representation of the population of people living with ALS but do not always collect covariates and clinical outcomes. Clinical studies with rich datasets of participant characteristics and validated clinical outcomes have stricter inclusion and exclusion criteria that may not be generalizable to the full ALS population. What this study adds: To bridge this gap, we collected baseline characteristics for a sample of the population of people living with ALS seen at a consortium of ALS clinics that collect extensive, pre-specified participant-level data, including validated outcome measures. How this study might affect research, practice, or policy: A clinic-based longitudinal dataset can improve our understanding of the natural history of ALS and can be used to inform the design and analysis of clinical trials and health economics studies, to help the prediction of clinical course, to find matched controls for open label extension trials and expanded access protocols, and to document real-world evidence of the impact of novel treatments and changes in care practice. [ABSTRACT FROM AUTHOR]
Published: 2023
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42. ALSUntangled #68: ozone therapy

Author: Sun, Yuyao, primary, Barkhaus, Paul, additional, Barnes, Benjamin, additional, Beauchamp, Morgan, additional, Benatar, Michael, additional, Bertorini, Tulio, additional, Bromberg, Mark, additional, Carter, Gregory T., additional, Crayle, Jesse, additional, Cudkowicz, Merit, additional, Dimachkie, Mazen, additional, Feldman, Eva L., additional, Fullam, Timothy, additional, Heiman-Patterson, Terry, additional, Jhooty, Sartaj, additional, Lund, Isaac, additional, Mcdermott, Christopher, additional, Pattee, Gary, additional, Pierce, Kaitlyn, additional, Ratner, Dylan, additional, Wicks, Paul, additional, and Bedlack, Richard, additional
Published: 2022
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43. Survey of current enteral nutrition practices in treatment of amyotrophic lateral sclerosis

Author: Zhang, May, Hubbard, Jane, Rudnicki, Stacy A., Johansen, Carolyn S., Dalton, Kate, Heiman-Patterson, Terry, Forshew, Dalles A., and Wills, Anne-Marie
Published: 2013
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44. Ubiquitinated Inclusions Link Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Author: Lippa, Carol F., Heiman-Patterson, Terry, Gambetti, Pierluigi, Croul, Sidney, Koffler, Sandra, Miyoshi, Koho, editor, Shapiro, Colin M., editor, Gaviria, Moises, editor, and Morita, Yoshio, editor
Published: 2001
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45. ALSUntangled #68: ozone therapy.

Author: Sun, Yuyao, Barkhaus, Paul, Barnes, Benjamin, Beauchamp, Morgan, Benatar, Michael, Bertorini, Tulio, Bromberg, Mark, Carter, Gregory T., Crayle, Jesse, Cudkowicz, Merit, Dimachkie, Mazen, Feldman, Eva L., Fullam, Timothy, Heiman-Patterson, Terry, Jhooty, Sartaj, Lund, Isaac, Mcdermott, Christopher, Pattee, Gary, Pierce, Kaitlyn, and Ratner, Dylan
Subjects: OZONE therapy, AMYOTROPHIC lateral sclerosis
Abstract: ALSUntangled reviews alternative and off-label treatments for people living with amyotrophic lateral sclerosis (PALS). Here we review ozone therapy. Ozone therapy has possible mechanisms for slowing ALS progression based on its antioxidant, anti-inflammatory, and mitochondrial effects. A non-peer-reviewed report suggests that ozone treatment may slow progression in a mTDP-43 mouse model of ALS. One verified "ALS reversal" occurred on a cocktail of alternative treatments including ozone. There are no ALS trials using ozone to treat PALS. There can be potentially serious side effects associated with ozone therapy, depending on the dose. Based on the above information, we support an investigation of ozone therapy in ALS cell or animal models but cannot yet recommend it as a treatment in PALS. [ABSTRACT FROM AUTHOR]
Published: 2023
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46. ALSUntangled #67: rituximab.

Author: Li, Xiaoyan, Armon, Carmel, Barkhaus, Paul, Barnes, Benjamin, Benatar, Michael, Bertorini, Tulio, Bromberg, Mark, Carter, Gregory T., Crayle, Jesse, Cudkowicz, Merit, Dimachkie, Mazen, Feldman, Eva L., Glass, Jonathan, Goslinga, Jill, Heiman-Patterson, Terry, Jhooty, Sartaj, Lichtenstein, Rachel, Lund, Isaac, Mcdermott, Christopher, and Pattee, Gary
Subjects: RITUXIMAB, B cells
Abstract: ALSUntangled reviews alternative and off-label treatments on behalf of people with ALS who ask about them. Here we review rituximab, a drug which specifically depletes B lymphocytes. We show a current lack of evidence for a role of these cells in ALS progression. The one patient we found who described using Rituximab for their ALS found no benefit. Given all this, and the known serious risks of rituximab, we advise against its use as an ALS treatment. [ABSTRACT FROM AUTHOR]
Published: 2023
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47. ALSUntangled #67: rituximab

Author: Li, Xiaoyan, primary, Armon, Carmel, additional, Barkhaus, Paul, additional, Barnes, Benjamin, additional, Benatar, Michael, additional, Bertorini, Tulio, additional, Bromberg, Mark, additional, Carter, Gregory T., additional, Crayle, Jesse, additional, Cudkowicz, Merit, additional, Dimachkie, Mazen, additional, Feldman, Eva L., additional, Glass, Jonathan, additional, Goslinga, Jill, additional, Heiman-Patterson, Terry, additional, Jhooty, Sartaj, additional, Lichtenstein, Rachel, additional, Lund, Isaac, additional, Mcdermott, Christopher, additional, Pattee, Gary, additional, Pierce, Kaitlyn, additional, Ratner, Dylan, additional, Salmon, Kristiana, additional, Wicks, Paul, additional, and Bedlack, Richard, additional
Published: 2022
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48. Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease

Author: Alexander, Guillermo M., primary, Heiman-Patterson, Terry D., additional, Bearoff, Frank, additional, Sher, Roger B., additional, Hennessy, Laura, additional, Terek, Shannon, additional, Caccavo, Nicole, additional, Cox, Gregory A., additional, Philip, Vivek M., additional, and Blankenhorn, Elizabeth A., additional
Published: 2022
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49. Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study

Author: Elman, Lauren, primary, Youn, Bora, additional, Proud, Crystal M., additional, Frey, Margaret R., additional, Ajroud-Driss, Senda, additional, McCormick, M. Eileen, additional, Michelson, David, additional, Cartwright, Michael S., additional, Heiman-Patterson, Terry, additional, Choi, Joseph M., additional, Chandak, Aastha, additional, Khachatryan, Artak, additional, Martinez, Marta, additional, and Paradis, Angela D., additional
Published: 2022
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50. Chromosome 17 Candidate Gene Analysis in a Population Referred Because of Suspected Susceptibility to Malignant Hyperthermia

Author: Vita, Gary M., Olckers, Antonel, Jedlicka, Anne E., Heiman-Patterson, Terry, George, Alfred L., Fletcher, Jeffery E., Rosenberg, Henry, Levitt, Roy C., Morio, Michio, editor, Kikuchi, Hirosato, editor, and Yuge, Osafumi, editor
Published: 1996
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