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1. HostSeq: a Canadian whole genome sequencing and clinical data resource

Author: Yoo, S, Garg, E, Elliott, LT, Hung, RJ, Halevy, AR, Brooks, JD, Bull, SB, Gagnon, F, Greenwood, CMT, Lawless, JF, Paterson, AD, Sun, L, Zawati, MH, Lerner-Ellis, J, Abraham, RJS, Birol, I, Bourque, G, Garant, J-M, Gosselin, C, Li, J, Whitney, J, Thiruvahindrapuram, B, Herbrick, J-A, Lorenti, M, Reuter, MS, Adeoye, OO, Liu, S, Allen, U, Bernier, FP, Biggs, CM, Cheung, AM, Cowan, J, Herridge, M, Maslove, DM, Modi, BP, Mooser, V, Morris, SK, Ostrowski, M, Parekh, RS, Pfeffer, G, Suchowersky, O, Taher, J, Upton, J, Warren, RL, Yeung, RSM, Aziz, N, Turvey, SE, Knoppers, BM, Lathrop, M, Jones, SJM, Scherer, SW, and Strug, LJ
Published: 2023
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2. Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.

Author: Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., Klein, Christine, Vollstedt, E.J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R.N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R.A., Barkhuizen, M., Basak, A.N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A., Carr, J., Clarimon, J., Cornejo-Olivas, M., Correia Guedes, L., Corvol, J.C., Crosiers, D., Damásio, J., Das, P., Carvalho Aguiar, P. de, Rosa, A. De, Dorszewska, J., Ertan, S., Ferese, R., Ferreira, J., Gatto, E., Genç, G., Giladi, N., Gómez-Garre, P., Hanagasi, H., Hattori, N., Hentati, F., Hoffman-Zacharska, D., Illarioshkin, S.N., Jankovic, J., Jesús, S., Kaasinen, V., Kievit, A., Klivenyi, P., Kostic, V., Koziorowski, D., Kühn, A.A., Lang, A.E., Lim, S.Y., Lin, Chih-Yu, Lohmann, K., Markovic, V., Martikainen, M.H., Mellick, G., Merello, M., Milanowski, L., Mir, P., Öztop-Çakmak, Ö., Pimentel, M.M.G., Pulkes, T., Puschmann, A., Rogaeva, E., Sammler, E.M., Skaalum Petersen, M., Skorvanek, M., Spitz, M., Suchowersky, O., Tan, A.H., Termsarasab, P., Thaler, Avner, Tumas, V., Valente, E.M., Warrenburg, B.P.C. van de, Williams-Gray, C.H., Wu, R.M., Zhang, B., Zimprich, A., Solle, J., Padmanabhan, S., and Klein, Christine
Abstract: Item does not contain fulltext, Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a monogenic cause or strong genetic risk factor. However, the vast majority of our present data on monogenic PD is based on the investigation of patients of European White ancestry, leaving a large knowledge gap on monogenic PD in underrepresented populations. Gene-targeted therapies are being developed at a fast pace and have started entering clinical trials. In light of these developments, building a global network of centers working on monogenic PD, fostering collaborative research, and establishing a clinical trial-ready cohort is imperative. Based on a systematic review of the English literature on monogenic PD and a successful team science approach, we have built up a network of 59 sites worldwide and have collected information on the availability of data, biomaterials, and facilities. To enable access to this resource and to foster collaboration across centers, as well as between academia and industry, we have developed an interactive map and online tool allowing for a quick overview of available resources, along with an option to filter for specific items of interest. This initiative is currently being merged with the Global Parkinson's Genetics Program (GP2), which will attract additional centers with a focus on underrepresented sites. This growing resource and tool will facilitate collaborative research and impact the development and testing of new therapies for monogenic and potentially for idiopathic PD patients.
Published: 2023

3. Embracing monogenic Parkinson's disease: the MJFF Global Genetic PD cohort

Author: Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., School of Medicine, Ertan, Fatoş Sibel (ORCID 0000-0003-1339-243X & YÖK ID 112829), Vollstedt, E.J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F.; Mirelman, A.; Giladi, N.; Marder, K.; Waters, C.; Fahn, S.; Kasten, M.; Brüggemann, N.; Borsche, M.; Foroud, T.; Tolosa, E.; Garrido, A.; Annesi, G.; Gagliardi, M.; Bozi, M.; Stefanis, L.; Ferreira, J.J.; Guedes, L.C.; Avenali, M.; Petrucci, S.; Clark, L.; Fedotova, E.Y.; Abramycheva, N.Y.; Alvarez, V.; Menéndez-González, M.; Maestre, SJ.; Gómez-Garre, P.; Mir, P.; Belin, A.C.; Ran, C.; Lin, C.H.; Kuo, M.C.; Crosiers, D.; Wszolek, Z.K.; Ross, O.A.; Jankovic, J.; Nishioka, K.; Funayama, M.; Clarimon, J.; Williams-Gray, C.H.; Camacho, M.; Cornejo-Olivas, M.; Torres-Ramirez, L.; Wu, YR.; Lee-Chen, G.J.; Morgadinho, A.; Pulkes, T.; Termsarasab, P.; Berg, D.; Kuhlenbäumer, G.; Kühn, A.A.; Borngräber, F.; de Michele, G.; De Rosa, A.; Zimprich, A.; Puschmann, A.; Mellick, GD.; Dorszewska, J.; Carr, J.; Ferese, R.; Gambardella, S.; Chase, B.; Markopoulou, K.; Satake, W.; Toda, T.; Rossi, M.; Merello, M.; Lynch, T.; Olszewska, D.A.; Lim, S.Y.; Ahmad-Annuar, A.; Tan, A.H.; Al-Mubarak, B.; Hanagasi, H.; Koziorowski, D.; Genç, G.; Aguiar, P.D.; Barkhuizen, M.; Pimentel, M.M.G.; Saunders-Pullman, R.; van de Warrenburg, B.; Bressman, S.; Toft, M.; Appel-Cresswell, S.; Lang, A.E.; Skorvanek, M.; Boon, A.J.W.; Krüger, R.; Sammler, E.M.; Tumas, V.; Zhang, B.R.; Garraux, G.; Chung, SJ.; Kim, Y.J.; Winkelmann, J.; Sue, C.M.; Tan, E.K.; Damásio, J.; Klivényi, P.; Kostic, V.S.; Arkadir, D.; Martikainen, M.; Borges, V.; Hertz, J.M.; Brighina, L.; Spitz, M.; Suchowersky, O.; Riess, O.; Das, P.; Mollenhauer, B.; Gatto, E.M.; Petersen, M.S.; Hattori, N.; Wu, R.M.; Illarioshkin, S.N.; Valente, E.M.; Aasly, J.O.; Aasly, A.; Alcalay, R.N.; Thaler, A.; Farrer, M.J.; Brockmann, K.; Corvol, J.C.; Klein, C., and School of Medicine
Abstract: Background: as gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. Objective: the objectives are to (1) establish an international cohort of affected and unaffected individuals with PD-linked variants; (2) provide harmonized and quality-controlled clinical characterization data for each included individual; and (3) further promote collaboration of researchers in the field of monogenic PD. Methods: we conducted a worldwide, systematic online survey to collect individual-level data on individuals with PD-linked variants in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1, as well as selected pathogenic and risk variants in GBA and corresponding demographic, clinical, and genetic data. All registered cases underwent thorough quality checks, and pathogenicity scoring of the variants and genotype–phenotype relationships were analyzed. Results: we collected 3888 variant carriers for our analyses, reported by 92 centers (42 countries) worldwide. Of the included individuals, 3185 had a diagnosis of PD (ie, 1306 LRRK2, 115 SNCA, 23 VPS35, 429 PRKN, 75 PINK1, 13 DJ-1, and 1224 GBA) and 703 were unaffected (ie, 328 LRRK2, 32 SNCA, 3 VPS35, 1 PRKN, 1 PINK1, and 338 GBA). In total, we identified 269 different pathogenic variants; 1322 individuals in our cohort (34%) were indicated as not previously published. Conclusions: within the MJFF Global Genetic PD Study Group, we (1) established the largest international cohort of affected and unaffected individuals carrying PD-linked variants; (2) provide harmonized and quality-controlled clinical and genetic data for each included individual; (3) promote collaboration in the field of genetic PD with a view toward, Open Access funding enabled and organized by Projekt DEAL. Funding text 1: Carolyn M. Sue: Intellectual Property Rights: WO 2015/157794 A1. Advisory Boards: AbbVie. Employment: Northern Sydney Local Health District, Sydney, Australia. Honoraria: The International Movement Disorder Society for course directorships and invited lectures. Patents: WO 2015/157794 A1. Grants: 2018–22 NHMRC Partnership grant (APP1151906); 2018–22 MRFF NHMRC Practitioner Fellowship (App1136800); 2020–2025 NHMRC Partnership grant (APP11179029); 2020–2023 NHMRC Ideas Grant (APP1184403); 2021–5 MRFF 2020 Genomics Health Futures Mission Grant (APP2007959); 2021–23 ASAP Project grant ; Funding text 2: Natalya Y. Abramycheva: Employment: Research Center of Neurology, Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia. Grants: Russian Science Foundation ; Funding text 3: Rachel Saunders?Pullman: Employment: Icahn School of Medicine at Mount Sinai, New York City, New York, USA. Grants: NIH 1U01NS107016?01A1; Bigglesworth Family Foundation. Others: Bachmann?Strauss Chair ; Funding text 4: Zbigniew K. Wszolek: Advisory Boards: Vigil Neuroscience, Inc. Employment: Mayo Clinic, Jacksonville, Florida, USA. Grants: NIH/NIA and NIH/NINDS (1U19AG063911, FAIN: U19AG063911), Mayo Clinic Center for Regenerative Medicine, PI or co?PI on Biohaven Pharmaceuticals, Inc. (BHV4157?206 and BHV3241?301), Neuraly, Inc. (NLY01?PD?1), and Vigil Neuroscience, Inc. (VGL101?01.001 and VGL101?01.002). He also serves as the co?PI of the Mayo Clinic APDA Center for Advanced Research. Others: Donations from the Donald G. and Jodi P. Heeringa Family, the Haworth Family Professorship in Neurodegenerative Diseases fund, and The Albertson Parkinson's Research Foundation ; Funding text 5: Vladimir S. Kostic: Employment: School of Medicine, University of Belgrade, Serbia. Grants: Project No 175090 Ministry of Education, Science and Technological Development of Serbia. Project ??28 Serbian Academy of S
Published: 2023

4. Additional file 1 of HostSeq: a Canadian whole genome sequencing and clinical data resource

Author: Yoo, S, Garg, E, Elliott, LT, Hung, RJ, Halevy, AR, Brooks, JD, Bull, SB, Gagnon, F, Greenwood, CMT, Lawless, JF, Paterson, AD, Sun, L, Zawati, MH, Lerner-Ellis, J, Abraham, RJS, Birol, I, Bourque, G, Garant, J-M, Gosselin, C, Li, J, Whitney, J, Thiruvahindrapuram, B, Herbrick, J-A, Lorenti, M, Reuter, MS, Adeoye, OO, Liu, S, Allen, U, Bernier, FP, Biggs, CM, Cheung, AM, Cowan, J, Herridge, M, Maslove, DM, Modi, BP, Mooser, V, Morris, SK, Ostrowski, M, Parekh, RS, Pfeffer, G, Suchowersky, O, Taher, J, Upton, J, Warren, RL, Yeung, RSM, Aziz, N, Turvey, SE, Knoppers, BM, Lathrop, M, Jones, SJM, Scherer, SW, and Strug, LJ
Abstract: Additional file 1: Table S1. HostSeq Core Consent Elements. In order to deposit datasets in HostSeq COVID-19 controlled-access Databank, all the elements in this table must be obtained in the research consent. Table S2. HostSeq Case Report Form. Table S3. Software used for processing WGS data. Table S4. List of HostSeq participating studies as described in respective protocols. Table S5. Distribution of sex and age across HostSeq studies (n = 9,427). SD: Standard deviation; IQR: interquartile range. Figure S1. Quality of HostSeq genomes. (A) Missing rate < 5%, (B) Contamination rate < 3%, (C) Mean coverage >10. Figure S2. Predicted population admixture and ancestry classification in HostSeq genomes. Each bar represents a genome. Proportion of African, East Asian and European ancestries is determined, and genomes classified into 8 ancestry groups using GRAF-pop. They are further categorized into 5 superpopulations: AFR - African and African-American, AMR - Latin American Asian and Latin American African, EAS - Asian-Pacific Islander and East Asian, SAS - South Asian, and EUR - European. 3% of genomes remain uncategorized. Figure S3. Genetic distances score of HostSeq genomes. The four genetic distances (GD1-4) scores from GRAF-pop represent the distance of each genome from several reference populations and are used to predict ancestry. Barycentric coordinates of GD1 and GD2 are used to predict admixture proportion of African, East Asian and European ancestries.
Published: 2023
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5. HostSeq : A Canadian Whole Genome Sequencing and Clinical Data Resource

Author: Yoo, S, primary, Garg, E, additional, Elliott, LT, additional, Hung, RJ, additional, Halevy, AR, additional, Brooks, JD, additional, Bull, SB, additional, Gagnon, F, additional, Greenwood, CMT, additional, Lawless, JF, additional, Paterson, AD, additional, Sun, L, additional, Zawati, MH, additional, Lerner-Ellis, J, additional, Abraham, RJS, additional, Birol, I, additional, Bourque, G, additional, Garant, J-M, additional, Gosselin, C, additional, Li, J, additional, Whitney, J, additional, Thiruvahindrapuram, B, additional, Herbrick, J-A, additional, Lorenti, M, additional, Reuter, MS, additional, Adeoye, NO, additional, Liu, S, additional, Allen, U, additional, Bernier, FP, additional, Biggs, CM, additional, Cheung, AM, additional, Cowan, J, additional, Herridge, M, additional, Maslove, DM, additional, Modi, BP, additional, Mooser, V, additional, Morris, SK, additional, Ostrowski, M, additional, Parekh, RS, additional, Pfeffer, G, additional, Suchowersky, O, additional, Taher, J, additional, Upton, J, additional, Warren, RL, additional, Yeung, RSM, additional, Aziz, N, additional, Turvey, SE, additional, Knoppers, BM, additional, Lathrop, M, additional, Jones, SJM, additional, Scherer, SW, additional, and Strug, LJ, additional
Published: 2022
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6. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Author: Sawyer, S. L., Hartley, T., Dyment, D. A., Beaulieu, C. L., Schwartzentruber, J., Smith, A., Bedford, H. M., Bernard, G., Bernier, F. P., Brais, B., Bulman, D. E., Chardon, Warman J., Chitayat, D., Deladoëy, J., Fernandez, B. A., Frosk, P., Geraghty, M. T., Gerull, B., Gibson, W., Gow, R. M., Graham, G. E., Green, J. S., Heon, E., Horvath, G., Innes, A. M., Jabado, N., Kim, R. H., Koenekoop, R. K., Khan, A., Lehmann, O. J., Mendoza-Londono, R., Michaud, J. L., Nikkel, S. M., Penney, L. S., Polychronakos, C., Richer, J., Rouleau, G. A., Samuels, M. E., Siu, V. M., Suchowersky, O., Tarnopolsky, M. A., Yoon, G., Zahir, F. R., Majewski, J., and Boycott, K. M.
Published: 2016
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7. Surgery for Parkinson's disease improves disability but not impairment components of the UPDRS-II

Author: Haffenden, A., Khan, U., Kiss, Z.H.T., and Suchowersky, O.
Published: 2007
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8. Dentatorubropallidoluysian Atrophy

Author: Diesta, C.C., primary, Ranawaya, R., additional, and Suchowersky, O., additional
Published: 2010
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9. Choreiform Disorders

Author: Ghosh, B., primary, Diesta, C.C., additional, and Suchowersky, O., additional
Published: 2010
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10. The genetic landscape of hereditary spastic paraplegia in Canada

Author: Estiar, M.A., primary, Yu, E., additional, Ruskey, J.A., additional, Leveille, E., additional, Asayesh, F., additional, Spiegelman, D., additional, Trempe, J.F., additional, Tarnopolsky, M., additional, Suchowersky, O., additional, Dupré, N., additional, Boycott, K.M., additional, Yoon, G., additional, Rouleau, G.A., additional, and Gan-Or, Z., additional
Published: 2020
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11. THE IMPORTANCE OF LONG TERM BANKING OF TISSUE SAMPLES FOR DIAGNOSTIC CONFIRMATION IN HUNTINGTON DISEASE: C05

Author: MacLaren, L and Suchowersky, O
Published: 2009
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12. Impact of standard of care for psychosis in Parkinson disease

Author: Thomsen, T R, Panisset, M, Suchowersky, O, Goodridge, A, Mendis, T, and Lang, A E
Published: 2008
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13. Identification of symbol digit modality test score extremes in Huntington's disease

Author: Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Bentivoglio, AR, Biunno, I, Bonelli, RM, Dunnett, SB, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Paivarinta, M, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Uhrova, T, Come, A, Garde, MB, Betz, S, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Finisterra, M, Genoves, C, Gilling, M, Handley, OJ, Hvalstedt, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Koivisto, SP, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Yudina, E, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Verellen-Dumoulin, C, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Bachoud-Levi, AC, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Krystkowiak, P, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Barth, K, Buck, A, Connemann, J, Ecker, D, Geitner, C, Held, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Lewerenz, J, Nepper, S, Niess, A, Orth, M, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, Baake, V, van den Bogaard, SJA, Bos, R, Dumas, EM, t'Hart, EP, Kampstra, A, Roos, RAC, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Heiberg, A, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Rudzinska, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Zielonka, D, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Stepniak, I, Sulek, A, Witkowski, G, Zaremba, J, Zdzienicka, E, Ziora-Jakutowicz, K, Januario, C, Julio, F, Guedes, LC, Coelho, M, Finisterra, AM, Ferreira, JJ, Mestre, T, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, Maria, ADS, Munoz, E, Santacruz, P, Barbera, MA, Pardo, SA, Guia, DB, Calzado, N, Hernanz, LC, Diaz-Zorita, JPT, Catena, JL, Ferrer, PQ, Carruesco, GT, Robert, MF, Viladrich, CM, Roca, E, Idiago, JMR, Riballo, AV, Campolongo, A, de Bobadilla, RF, Bojarsky, JK, Martinez-Horta, S, Pagonabarraga, J, Perez, JP, Ribosa, R, Villa, C, Gil, MAA, Corrales, KB, Esteban, JCG, Gonzalez, A, Merino, BT, Cubo, E, Polo, CG, Mariscal, N, Romero, SG, Arbelo, JM, de Molina, RM, Martin, I, Perianez, JM, Udaeta, B, Alonso-Frech, F, Frades, B, Villanueva, MA, Sevilla, MAZ, Frech, FA, Fenollar, MD, Garcia, RGR, Villanueva, C, Bascunana, M, Ventura, MF, Ribas, GG, de Yebenes, JG, Moreno, JLLS, Barral, VM, Ruiz, PJG, Garcia, A, Lopez, RG, Barcenas, AH, Martinez-Descals, A, Martin, VP, Martinez, NR, Artiga, MJS, Sanchez, V, Pueyo, A, Gonzalez, S, Guisasola, LM, Ribacoba, MPPR, Salvador, C, Lozano, PS, Caldentey, JG, Ramirez, IL, Arques, PN, Lopera, MR, Pastor, BV, Gaston, I, Garcia-Amigot, F, Martinez-Jaurrieta, MD, Ramos-Arroyo, MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Wahlstrom, J, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Pallett, A, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Wright, A, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Price, K, Townhill, J, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, Bruno, S, Doherty, K, Golding, C, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Chu, E, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Weekes, R, Craven, J, Bailey, W, Coleman, C, Haig-Brown, D, Simpson, S, Hare, M, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, Nevitt, L, Peppa, N, Quarrell, O, Taylor, C, Tidswell, K, O'Donovan, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Burgunder, JM, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Antonijevic, I, vankammen, D, Foroud, T, Warner, J, Giuliano, J, Vetter, L, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Dorsey, R, Nucifora, F, Dubinsky, R, Dubinsky, H, Suchowersky, O, Klimek, ML, Jones, R, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Oakes, D, Beck, C, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Hunt, V, Lucarelli, N, Broyles, J, Delarosa, J, Louis, E, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Testa, C, Thiede, F, Zauber, SE, McInnis, R, Welsh, C, Wesson, M, Coleman, A, and European Commission
Subjects: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, COHORT, Cox hazard model, quantile regression, REGISTRY, symbol digit modalities test, Genotype, Neuropsychological Tests, Cohort Studies, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, 0302 clinical medicine, Huntington's disease, Rating scale, mental disorders, medicine, Humans, Verbal fluency test, Longitudinal Studies, Genetics (clinical), Proportional Hazards Models, 030304 developmental biology, 0303 health sciences, Proportional hazards model, business.industry, Reproducibility of Results, Middle Aged, medicine.disease, nervous system diseases, Psychiatry and Mental health, Huntington Disease, Phenotype, Test score, Cohort, Disease Progression, Female, Observational study, business, 030217 neurology & neurosurgery, Stroop effect, Clinical psychology
Abstract: REGISTRY Investigators of the European Huntington's Disease Network and COHORT Investigators of the Huntington Study Group., Studying individuals with extreme phenotypes could facilitate the understanding of disease modification by genetic or environmental factors. Our aim was to identify Huntington's disease (HD) patients with extreme symbol digit modality test (SDMT) scores. We first examined in HD the contribution of cognitive measures of the Unified Huntington's Disease Rating Scale (UHDRS) in predicting clinical endpoints. The language-independent SDMT was used to identify patients performing very well or very poorly relative to their CAG and age cohort. We used data from REGISTRY and COHORT observational study participants (5,603 HD participants with CAG repeats above 39 with 13,868 visits) and of 1,006 healthy volunteers (with 2,241 visits), included to identify natural aging and education effects on cognitive measures. Separate Cox proportional hazards models with CAG, age at study entry, education, sex, UHDRS total motor score and cognitive (SDMT, verbal fluency, Stroop tests) scores as covariates were used to predict clinical endpoints. Quantile regression for longitudinal language-independent SDMT data was used for boundary (2.5% and 97.5% quantiles) estimation and extreme score analyses stratified by age, education, and CAG repeat length. Ten percent of HD participants had an extreme SDMT phenotype for at least one visit. In contrast, only about 3% of participants were consistent SDMT extremes at two or more visits. The thresholds for the one-visit and two-visit extremes can be used to classify existing and new individuals. The identification of these phenotype extremes can be useful in the search for disease modifiers., This work was in part funded by a grant from the EuropeanCommission under the 7th framework programme (RD-Connect, grantagreement number 305444).
Published: 2019
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14. Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation

Author: Bombard, Y, Penziner, E, Decolongon, J, Klimek, M LN, Creighton, S, Suchowersky, O, Guttman, M, Paulsen, J S, Bottorff, J L, and Hayden, M R
Published: 2007

15. Absence of Previously Reported Variants in the Scna (G88c and G209a), Nr4a2 (T291d and T245g) and the Dj-1 (T497c) Genes in Familial Parkinsonʼs Disease From the GenePd Study

Author: Karamohamed, Samer, Golbe, L. I., Mark, M. H., Lazzarini, A. M., Suchowersky, O., Labelle, N., Guttman, Mark, Currie, L. J., Wooten, G. F., Stacy, M., Saint-Hilaire, M., Feldman, R. G., Liu, J., Shoemaker, C. M., Wilk, J. B., DeStefano, A. L., Latourelle, J. C., Xu, G., Watts, R., Growdon, J., Lew, M., Waters, C., Vieregge, P., Pramstaller, P. P., Klein, C., Racette, B. A., Perlmutter, J. S., Parsian, A., Singer, Carlos, Montgomery, E., Baker, K., Gusella, J. F., Herbert, A., and Myers, R. H.
Published: 2005
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16. High and low levels of an NTRK2-driven genetic profile affect motor- and cognition-associated frontal gray matter in prodromal Huntington’s disease

Author: Ciarochi, JA, Liu, J, Calhoun, V, Johnson, H, Misiura, M, Bockholt, HJ, Espinoza, FA, Caprihan, A, Plis, S, Turner, JA, Paulsen, JS, Long, JD, Johnson, HJ, Brashers-Krug, T, Danzer, P, Miller, A, Montross, K, Harrington, D, Westervelt, H, Aylward, E, Rao, S, Moser, DJ, Williams, J, Downing, N, Magnotta, VA, Vaidya, J, O Leary, D, Kim, EY, Kim, JI, Lourens, S, Zhang, Y, Lu, W, Erwin, C, Nance, M, Evans, J, Zschiegner, R, Chiu, E, Loi, S, Chua, P, Raymond, L, Ross, CA, Mallonee, WM, Samii, A, Jones, R, Barker, RA, McCusker, E, Loy, C, Orth, M, Süßmuth, S, Quaid, K, Guttman, M, Perlman, S, Geschwind, MD, Sha, S, Warner, T, Rosser, A, Marshall, F, Panegyres, P, Lee, J, Perlmutter, J, Miedzybrodzka, Z, Craufurd, D, Mazzoni, P, Marder, K, Kumar, R, Wheelock, V, Martin, W, Suchowersky, O, Ahmed, A, De Soriano, I, Shadrick, C, Preston, J, Goh, A, Antonopoulos, S, Komiti, A, Decolongon, J, Fan, M, Coleman, A, Varvaris, M, Ong, M, Yoritomo, N, Suter, G, Freney, EP, Macaraeg, A, Wood-Siverio, C, Factor, SA, Mason, S, Guzman, NV, Griffith, J, McMillan, J, Raymond, Lucy [0000-0003-2652-3355], Barker, Roger [0000-0001-8843-7730], Mason, Sarah [0000-0001-6715-4109], and Apollo - University of Cambridge Repository
Subjects: supplementary motor, independent component analysis, tropomyosin receptor kinase B, brain-derived neurotrophic factor, Huntington’s disease
Abstract: This study assessed how BDNF (brain-derived neurotrophic factor) and other genes involved in its signaling influence brain structure and clinical functioning in pre-diagnosis Huntington’s disease (HD). Parallel independent component analysis (pICA), a multivariate method for identifying correlated patterns in multimodal datasets, was applied to gray matter concentration (GMC) and genomic data from a sizeable PREDICT-HD prodromal cohort (N = 715). pICA identified a genetic component highlighting NTRK2, which encodes BDNF’s TrkB receptor, that correlated with a GMC component including supplementary motor, precentral/premotor cortex, and other frontal areas (p < 0.001); this association appeared to be driven by participants with high or low levels of the genetic profile. The frontal GMC profile correlated with cognitive and motor variables (Trail Making Test A (p = 0.03); Stroop Color (p = 0.017); Stroop Interference (p = 0.04); Symbol Digit Modalities Test (p = 0.031); Total Motor Score (p = 0.01)). A top-weighted NTRK2 variant (rs2277193) was protectively associated with Trail Making Test B (p = 0.007); greater minor allele numbers were linked to a better performance. These results support the idea of a protective role of NTRK2 in prodromal HD, particularly in individuals with certain genotypes, and suggest that this gene may influence the preservation of frontal gray matter that is important for clinical functioning.
Published: 2018

17. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

Author: Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, Zoghbi, HY, Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, and Zoghbi, HY
Abstract: Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). We also identified a milder missense mutation in a family with adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA). Studies in patient-derived cells revealed that the missense mutations reduced PUM1 protein levels by ∼25% in the adult-onset cases and by ∼50% in the infantile-onset cases; levels of known PUM1 targets increased accordingly. Changes in protein levels thus track with phenotypic severity, and identifying posttranscriptional modulators of protein expression should identify new candidate disease genes. Different dosages of an RNA-binding protein result in human neurological diseases of corresponding severities.
Published: 2018

18. Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Author: Toppings, N. B., primary, McMillan, J. M., additional, Au, P. Y. B., additional, Suchowersky, O., additional, and Donovan, L. E., additional
Published: 2018
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19. Rotigotine transdermal system for long-term treatment of patients with advanced Parkinson’s disease: results of two open-label extension studies, CLEOPATRA-PD and PREFER

Author: Lewitt, P, Boroojerdi, B, Surmann, E, Poewe, W, Calabrese, V, Cleeremans, B, Curran, T, Chang, F, Dewey, R, Elmer, L, Higgins, D, Gazda, S, Glyman, S, Golbe, L, Grimes, D, Kostyk, S, Jankovic, J, Jennings, D, Taber, L, Kishner, R, Singer, C, Leopold, N, Margolin, D, Martin, W, Camicioli, R, Murphy, J, Panisset, M, Truong, D, Patton, J, Petzinger, G, Lew, M, Racette, B, Rajput, A, Rao, J, Scott, B, Singer, R, Samanta, J, Suchowersky, O, Tarsy, D, Waters, C, Evatt, M, Wendt, J, Pahwa, R, Siegel, K, Banas, T, Nausieda, P, Hull, K, Hull, R, Chumley, W, Cohen, S, Brew, B, Crimmins, D, Fung, V, Hayes, M, Thyagarajan, D, Brinar, V, Demarin, V, Bar, M, Ehler, E, Polivka, J, Rektor, I, Ruzicka, E, Svatova, J, Broussolle, E, Destee, A, Viallet, F, Jolma, T, Myllyla, V, Kronenbuerger, M, Mueller, T, Rózsa, C, Pal, E, Takacs, A, Valikovics, A, Djaldetti, R, Giladi, N, Anderson, T, Mossman, S, Snow, B, Aasly, J, Hestnes, A, Larsen, J, Tysnes, O, Chmielewska, B, Kotowicz, J, Nyka, W, Pruchnik Wolinska, D, Szczudlik, A, Tutaj, A, Badenhorst, F, Carr, J, Fine, J, Guldenphennig, W, Kies, B, Smuts, J, Hallström, Y, Barone, P, Battistin, U, Bonucceli, L, Pezzoli, G, Ruggieri, S, Stanzione, P, Aguilar, M, Balaguer, M, Francesc, E, Grandas, F, Kulisevsky, J, Linazasoro, G, Tolosa, E, Boothman, B, Grosset, D, and Sagar, H
Subjects: Male, Time Factors, Parkinson's disease, Severity of Illness Index, law.invention, Randomized controlled trial, law, Outcome Assessment, Health Care, Activities of Daily Living, 80 and over, Medicine, Open-label, Longitudinal Studies, Rotigotine transdermal system, Aged, 80 and over, Administration, Cutaneous, Double-Blind Method, Humans, Aged, Outcome Assessment (Health Care), Thiophenes, Dopamine Agonists, Parkinson Disease, Adult, Tetrahydronaphthalenes, Middle Aged, Female, Clinical trial, Psychiatry and Mental health, Neurology, Tolerability, Administration, Settore MED/26 - Neurologia, medicine.symptom, Somnolence, medicine.drug, medicine.medical_specialty, Clinical Neurology, Neurology and Preclinical Neurological Studies - Original Article, rotigotine, Parkinson´s disease, cleopatra-pd study, prefer study, Internal medicine, Severity of illness, Adverse effect, Biological Psychiatry, business.industry, Rotigotine, medicine.disease, Cutaneous, Parkinson’s disease, Physical therapy, Neurology (clinical), business
Abstract: Open-label extensions [studies SP516 (NCT00501969) and SP715 (NCT00594386)] of the CLEOPATRA-PD and PREFER studies were conducted to evaluate the safety, tolerability and efficacy of the dopaminergic agonist, rotigotine, over several years of follow-up in patients with advanced Parkinson’s disease (PD). Eligible subjects completing the double-blind trials received open-label adjunctive rotigotine (≤16 mg/24 h) for up to 4 and 6 years in Studies SP516 and SP715, respectively. Safety and tolerability were assessed using adverse events, vital signs and laboratory parameters, and efficacy assessed using the unified Parkinson’s disease rating scale (UPDRS). Of the 395 and 258 patients enrolled in the SP516 and SP715 studies, 48 and 45 % completed, respectively. Adverse events were typically dopaminergic effects [e.g., somnolence (18–25 %/patient-year), insomnia (5–7 %/patient-year), dyskinesias (4–8 %/patient-year) and hallucinations (4–8 %/patient-year)], or related to the transdermal application of a patch (application site reactions: 14–15 %/patient-year). There were no clinically relevant changes in vital signs or laboratory parameters in either study. Mean UPDRS part II (activities of daily living) and part III (motor function) total scores improved from double-blind baseline during dose titration, then gradually declined over the maintenance period. In study SP516, mean UPDRS part II and III total scores were 0.8 points above and 2.8 points below double-blind baseline, respectively, at end of treatment. In study SP715, mean UPDRS part II and III total scores were 4.1 points above and 0.2 points below baseline, respectively, at end of treatment. In these open-label studies, adjunctive rotigotine was efficacious with an acceptable safety and tolerability profile in patients with advanced PD for up to 6 years.
Published: 2012
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20. P.066 Intrajejunal levodopa infusion (ILI) for Parkinson’s Disease (PD): a Canadian experience

Author: Podgorny, P, primary, McCann, P, additional, Toore, K, additional, Tremain, G, additional, Lazarescu, A, additional, and Suchowersky, O, additional
Published: 2017
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21. Intra-individual variability in prodromal Huntington disease and its relationship to genetic burden

Author: Musso, M, Westervelt, HJ, Long, JD, Morgan, E, Woods, SP, Smith, MM, Lu, W, Paulsen, JS, Cross, S, Ryan, P, Epping, EA, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, Gunn, D, Orth, M, Süßmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Suchowersky, O, Martin, W, King, P, Wieler, M, Sran, S, Ahmed, A, Rao, S, and Reece, C
Abstract: © INS. The International Neuropsychological Society 2015. The current study sought to examine the utility of intra-individual variability (IIV) in distinguishing participants with prodromal Huntington disease (HD) from nongene-expanded controls. IIV across 15 neuropsychological tasks and within-task IIV using a self-paced timing task were compared as a single measure of processing speed (Symbol Digit Modalities Test [SDMT]) in 693 gene-expanded and 191 nongene-expanded participants from the PREDICT-HD study. After adjusting for depressive symptoms and motor functioning, individuals estimated to be closest to HD diagnosis displayed higher levels of across- and within-task variability when compared to controls and those prodromal HD participants far from disease onset (FICV(3,877) = 11.25; p
Published: 2015
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22. Multivariate clustering of progression profiles reveals different depression patterns in prodromal huntington disease

Author: Kim, JI, Long, JD, Mills, JA, McCusker, E, Paulsen, JS, De Soriano, I, Shadrick, C, Miller, A, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Ong, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Freney, EP, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, Griffith, J, Loy, C, McMillan, J, Gunn, D, Orth, M, Süßmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Law, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Winer, J, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, Vaughan, V, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Reeves, C, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Martin, W, Suchowersky, O, King, P, Wieler, M, Sran, S, Ahmed, A, and Rao, S
Abstract: Objective: Although Huntington disease (HD) is caused by an autosomal dominant mutation, its phenotypic presentation differs widely. Variability in clinical phenotypes of HD may reflect the existence of disease subtypes. This hypothesis was tested in prodromal participants from the longitudinal Neurobiological Predictors of Huntington Disease (PREDICT-HD) study. Method: We performed clustering using longitudinal data assessing motor, cognitive, and depression symptoms. Using data from 521 participants with 2,716 data points, we fit growth mixture models (GMM) that identify groups based on multivariate trajectories. Results: In various GMM, different phases of disease progression were partitioned by progression trajectories of motor and cognitive signs, and by overall level of depression symptoms. More progressed motor signs were accompanied by more progressed cognitive signs, but not always by higher levels of depressive symptoms. In several models, there were at least 2 groups with similar trajectories for motor and cognitive signs that showed different levels for depression symptoms- one with a very low level of depression and the other with a higher level of depression. Conclusions: Findings indicate that at least intermediate HD progression might be associated with different levels of depression. Depression is one of the few symptoms that is treatable in HD and has implications for clinical care. Identification of potential depression subtypes may also help to select appropriate patients for clinical trials.
Published: 2015
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23. Multivariate prediction of motor diagnosis in Huntington's disease: 12 years of PREDICT-HD

Author: Long, JD, Paulsen, JS, Soriano, ID, Shadrick, C, Miller, A, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Ong, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Freney, EP, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, McMillan, J, Gunn, D, Orth, M, Submuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Law, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Winer, J, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, Vaughan, V, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Reeves, C, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Martin, W, Suchowersky, O, King, P, Wieler, M, and Sran, S
Abstract: © 2015 The Authors. Background: It is well known in Huntington's disease that cytosine-adenine-guanine expansion and age at study entry are predictive of the timing of motor diagnosis. The goal of this study was to assess whether additional motor, imaging, cognitive, functional, psychiatric, and demographic variables measured at study entry increased the ability to predict the risk of motor diagnosis over 12 years. Methods: One thousand seventy-eight Huntington's disease gene-expanded carriers (64% female) from the Neurobiological Predictors of Huntington's Disease study were followed up for up to 12 y (mean=5, standard deviation=3.3) covering 2002 to 2014. No one had a motor diagnosis at study entry, but 225 (21%) carriers prospectively received a motor diagnosis. Analysis was performed with random survival forests, which is a machine learning method for right-censored data. Results: Adding 34 variables along with cytosine-adenine-guanine and age substantially increased predictive accuracy relative to cytosine-adenine-guanine and age alone. Adding six of the common motor and cognitive variables (total motor score, diagnostic confidence level, Symbol Digit Modalities Test, three Stroop tests) resulted in lower predictive accuracy than the full set, but still had twice the 5-y predictive accuracy than when using cytosine-adenine-guanine and age alone. Additional analysis suggested interactions and nonlinear effects that were characterized in a post hoc Cox regression model. Conclusions: Measurement of clinical variables can substantially increase the accuracy of predicting motor diagnosis over and above cytosine-adenine-guanine and age (and their interaction). Estimated probabilities can be used to characterize progression level and aid in future studies' sample selection.
Published: 2015
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24. Clinical and biomarker changes in premanifest Huntington disease show trial feasibility: a decade of the PREDICT-HD study

Author: Paulsen, J. S., Johnson, H. J., Aylward, E. H., Ross, C. A., Williams, J. K., Nance, M. A., Erwin, C. J., Westervelt, H. J., Harrington, D. L., Bockholt, H. J., Zhang, Y., McCusker, E. A., Chiu, E. M., Panegyres, P. K., Cross, S., Ryan, P., Epping, E. A., Preston, J., Goh, A., Antonopoulos, S., Loi, S., Raymond, L., Decolongon, J., Fan, M., Coleman, A., Mallone, W. M., Suter, G., Varvaris, M., Yoritomo, N., Griffith, J., Loy, C., Gunn, D., Guttman, M., Sheinberg, A., Law, A., Quaid, K., Wesson, M., Wojcieszek, J., Perlmutter, J., Barton, S., Smith, S., Barker, R. A., Mason, S., Guzman, N. V., Perlman, S., Clemente, B., Jones, R., Wood-Siverio, C., Factor, S. A., Samii, A., Macaraeg, A., Lee, J., Tedesco, M., Maxwell, B., Kumar, R., Erickson, D., Nickels, B., Marshall, F., Chesire, A., Wodarski, M., Hickey, C., Geschwind, M. D., Sha, S., Satris, G., Ahmed, A., Reece, C., Bura, A., Mourany, L., Pillai, J., Mazzoni, P., Marder, K., Wasserman, P., Craufurd, D., Bek, J., Howard, E., Warner, T., Burrows, M., Orth, M., Süßmuth, S., Barth, K., Trautmann, S., Schwenk, D., Eschenbach, C., Wheelock, V., Kjer, L., Martin, A., Farias, S., Miedzybrodzka, Z., Rae, D., D'Alessandro, M., Suchowersky, O., Chua, P., Komiti, A., Rosas, D., Rosser, Anne Elizabeth, Price, K., Hunt, S., Jankovic, J., Ondo, W., Martin, W., King, P., Wieler, M., Sran, S., de Yébenes, J. G., Dubinsky, R., and PREDICT-HD Investigators and Coordinators of the Huntington Study Group
Subjects: Aging, Pediatrics, medicine.medical_specialty, PREDICT-HD, Cognitive Neuroscience, Disease, Q1, Developmental psychology, lcsh:RC321-571, outcome measures, medicine, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Original Research, clinical trials, business.industry, Outcome measures, premanifest, Cognition, R1, 3. Good health, Natural history, Clinical trial, Huntington Disease, Cohort, Neurodegenerative disorders, Biomarker (medicine), Observational study, business, Neuroscience, Natural History
Abstract: There is growing consensus that intervention and treatment of Huntington disease (HD) should occur at the earliest stage possible. Various early-intervention methods for this fatal neurodegenerative disease have been identified, but preventive clinical trials for HD are limited by a lack of knowledge of the natural history of the disease and a dearth of appropriate outcome measures. Objectives of the current study are to document the natural history of premanifest HD progression in the largest cohort ever studied and to develop a battery of imaging and clinical markers of premanifest HD progression that can be used as outcome measures in preventive clinical trials. Neurobiological predictors of Huntington's disease is a 32-site, international, observational study of premanifest HD, with annual examination of 1013 participants with premanifest HD and 301 gene-expansion negative controls between 2001 and 2012. Findings document 39 variables representing imaging, motor, cognitive, functional, and psychiatric domains, showing different rates of decline between premanifest HD and controls. Required sample size and models of premanifest HD are presented to inform future design of clinical and preclinical research. Preventive clinical trials in premanifest HD with participants who have a medium or high probability of motor onset are calculated to be as resource-effective as those conducted in diagnosed HD and could interrupt disease 7-12 years earlier. Methods and measures for preventive clinical trials in premanifest HD more than a dozen years from motor onset are also feasible. These findings represent the most thorough documentation of a clinical battery for experimental therapeutics in stages of premanifest HD, the time period for which effective intervention may provide the most positive possible outcome for patients and their families affected by this devastating disease.
Published: 2014
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25. Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis

Author: Younes, L, Ratnanather, JT, Brown, T, Aylward, E, Nopoulos, P, Johnson, H, Magnotta, VA, Paulsen, JS, Margolis, RL, Albin, RL, Miller, MI, Ross, CA, Wassink, T, Cross, S, Kimble, M, Ryan, P, Epping, EA, Chiu, E, Yastrubetskaya, O, Preston, J, Goh, A, Psych, D, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Varvaris, M, Mallonee, WM, Suter, G, Samii, A, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Testa, C, Barker, RA, Mason, S, McCusker, E, Griffith, J, Loy, C, Gunn, D, Orth, M, Sübmuth, S, Barth, K, Trautmann, S, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Karmalkar, I, Perlman, S, Clemente, B, Geschwind, MD, Kang, G, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Andrew, S, Perlmutter, J, Barton, S, Schmidt, A, Miedzybrodzka, Z, Rae, D, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Marder, K, Wasserman, P, Kumar, R, Erickson, D, Wheelock, V, Tempkin, T, Kjer, L, Martin, W, King, P, Wieler, M, Sran, S, Suchowersky, O, and Ahmed, A
Subjects: nervous system
Abstract: Huntington disease (HD) is a neurodegenerative disorder that involves preferential atrophy in the striatal complex and related subcortical nuclei. In this article, which is based on a dataset extracted from the PREDICT-HD study, we use statistical shape analysis with deformation markers obtained through "Large Deformation Diffeomorphic Metric Mapping" of cortical surfaces to highlight specific atrophy patterns in the caudate, putamen, and globus pallidus, at different prodromal stages of the disease. On the basis of the relation to cortico-basal ganglia circuitry, we propose that statistical shape analysis, along with other structural and functional imaging studies, may help expand our understanding of the brain circuitry affected and other aspects of the neurobiology of HD, and also guide the most effective strategies for intervention. © 2012 Wiley Periodicals, Inc.
Published: 2014
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26. Tracking motor impairments in the progression of Huntington's disease

Author: Long, JD, Paulsen, JS, Marder, K, Zhang, Y, Kim, JI, Mills, JA, Cross, S, Ryan, P, Epping, EA, Vik, S, Chiu, E, Preston, J, Goh, A, Antonopoulos, S, Loi, S, Chua, P, Komiti, A, Raymond, L, Decolongon, J, Fan, M, Coleman, A, Ross, CA, Varvaris, M, Yoritomo, N, Mallonee, WM, Suter, G, Samii, A, Macaraeg, A, Jones, R, Wood-Siverio, C, Factor, SA, Barker, RA, Mason, S, Guzman, NV, McCusker, E, Griffith, J, Loy, C, Gunn, D, Orth, M, Sübmuth, S, Barth, K, Trautmann, S, Schwenk, D, Eschenbach, C, Quaid, K, Wesson, M, Wojcieszek, J, Guttman, M, Sheinberg, A, Law, A, Perlman, S, Clemente, B, Geschwind, MD, Sha, S, Satris, G, Warner, T, Burrows, M, Rosser, A, Price, K, Hunt, S, Marshall, F, Chesire, A, Wodarski, M, Hickey, C, Panegyres, P, Lee, J, Tedesco, M, Maxwell, B, Perlmutter, J, Barton, S, Smith, S, Miedzybrodzka, Z, Rae, D, D'Alessandro, M, Craufurd, D, Bek, J, Howard, E, Mazzoni, P, Wasserman, P, Kumar, R, Erickson, D, Nickels, B, Wheelock, V, Kjer, L, Martin, A, Farias, S, Martin, W, King, P, Wieler, M, Sran, S, Suchowersky, O, Ahmed, A, Rao, S, Reece, C, Bura, A, and Mourany, L
Abstract: The Unified Huntington's Disease Rating Scale is used to characterize motor impairments and establish motor diagnosis. Little is known about the timing of diagnostic confidence level categories and the trajectory of motor impairments during the prodromal phase. Goals of this study were to estimate the timing of categories, model the prodromal trajectory of motor impairments, estimate the rate of motor impairment change by category, and provide required sample size estimates for a test of efficacy in clinical trials. In total, 1010 gene-expanded participants from the Neurobiological Predictors of Huntington's Disease (PREDICT-HD) trial were analyzed. Accelerated failure time models were used to predict the timing of categories. Linear mixed effects regression was used to model the longitudinal motor trajectories. Age and length of gene expansion were incorporated into all models. The timing of categories varied significantly by gene expansion, with faster progression associated with greater expansion. For the median expansion, the third diagnostic confidence level category was estimated to have a first occurrence 1.5 years before diagnosis, and the second and first categories were estimated to occur 6.75 years and 19.75 years before diagnosis, respectively. Motor impairments displayed a nonlinear prodromal course. The motor impairment rate of change increased as the diagnostic confidence level increased, with added acceleration for higher progression scores. Motor items can detect changes in motor impairments before diagnosis. Given a sufficiently high progression score, there is evidence that the diagnostic confidence level can be used for prodromal staging. Implications for Huntington's disease research and the planning of clinical trials of efficacy are discussed. © 2013 International Parkinson and Movement Disorder Society.
Published: 2014
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27. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Author: Nalls, M.A. Pankratz, N. Lill, C.M. Do, C.B. Hernandez, D.G. Saad, M. Destefano, A.L. Kara, E. Bras, J. Sharma, M. Schulte, C. Keller, M.F. Arepalli, S. Letson, C. Edsall, C. Stefansson, H. Liu, X. Pliner, H. Lee, J.H. Cheng, R. Ikram, M.A. Ioannidis, J.P.A. Hadjigeorgiou, G.M. Bis, J.C. Martinez, M. Perlmutter, J.S. Goate, A. Marder, K. Fiske, B. Sutherland, M. Xiromerisiou, G. Myers, R.H. Clark, L.N. Stefansson, K. Hardy, J.A. Heutink, P. Chen, H. Wood, N.W. Houlden, H. Payami, H. Brice, A. Scott, W.K. Gasser, T. Bertram, L. Eriksson, N. Foroud, T. Singleton, A.B. Plagnol, V. Sheerin, U.-M. Simón-Sánchez, J. Lesage, S. Sveinbjörnsdóttir, S. Barker, R. Ben-Shlomo, Y. Berendse, H.W. Berg, D. Bhatia, K. de Bie, R.M.A. Biffi, A. Bloem, B. Bochdanovits, Z. Bonin, M. Bras, J.M. Brockmann, K. Brooks, J. Burn, D.J. Charlesworth, G. Chinnery, P.F. Chong, S. Clarke, C.E. Cookson, M.R. Cooper, J.M. Corvol, J.C. Counsell, C. Damier, P. Dartigues, J.-F. Deloukas, P. Deuschl, G. Dexter, D.T. van Dijk, K.D. Dillman, A. Durif, F. Dürr, A. Edkins, S. Evans, J.R. Foltynie, T. Dong, J. Gardner, M. Gibbs, J.R. Gray, E. Guerreiro, R. Harris, C. van Hilten, J.J. Hofman, A. Hollenbeck, A. Holton, J. Hu, M. Huang, X. Wurster, I. Mätzler, W. Hudson, G. Hunt, S.E. Huttenlocher, J. Illig, T. Jónsson, P.V. Lambert, J.-C. Langford, C. Lees, A. Lichtner, P. Limousin, P. Lopez, G. Lorenz, D. McNeill, A. Moorby, C. Moore, M. Morris, H.R. Morrison, K.E. Mudanohwo, E. O’sullivan, S.S. Pearson, J. Pétursson, H. Pollak, P. Post, B. Potter, S. Ravina, B. Revesz, T. Riess, O. Rivadeneira, F. Rizzu, P. Ryten, M. Sawcer, S. Schapira, A. Scheffer, H. Shaw, K. Shoulson, I. Sidransky, E. Smith, C. Spencer, C.C.A. Stefánsson, H. Bettella, F. Stockton, J.D. Strange, A. Talbot, K. Tanner, C.M. Tashakkori-Ghanbaria, A. Tison, F. Trabzuni, D. Traynor, B.J. Uitterlinden, A.G. Velseboer, D. Vidailhet, M. Walker, R. van de Warrenburg, B. Wickremaratchi, M. Williams, N. Williams-Gray, C.H. Winder-Rhodes, S. Stefánsson, K. Hardy, J. Factor, S. Higgins, D. Evans, S. Shill, H. Stacy, M. Danielson, J. Marlor, L. Williamson, K. Jankovic, J. Hunter, C. Simon, D. Ryan, P. Scollins, L. Saunders-Pullman, R. Boyar, K. Costan-Toth, C. Ohmann, E. Sudarsky, L. Joubert, C. Friedman, J. Chou, K. Fernandez, H. Lannon, M. Galvez-Jimenez, N. Podichetty, A. Thompson, K. Lewitt, P. Deangelis, M. O'brien, C. Seeberger, L. Dingmann, C. Judd, D. Marder, K. Fraser, J. Harris, J. Bertoni, J. Peterson, C. Rezak, M. Medalle, G. Chouinard, S. Panisset, M. Hall, J. Poiffaut, H. Calabrese, V. Roberge, P. Wojcieszek, J. Belden, J. Jennings, D. Marek, K. Mendick, S. Reich, S. Dunlop, B. Jog, M. Horn, C. Uitti, R. Turk, M. Ajax, T. Mannetter, J. Sethi, K. Carpenter, J. Dill, B. Hatch, L. Ligon, K. Narayan, S. Blindauer, K. Abou-Samra, K. Petit, J. Elmer, L. Aiken, E. Davis, K. Schell, C. Wilson, S. Velickovic, M. Koller, W. Phipps, S. Feigin, A. Gordon, M. Hamann, J. Licari, E. Marotta-Kollarus, M. Shannon, B. Winnick, R. Simuni, T. Videnovic, A. Kaczmarek, A. Williams, K. Wolff, M. Rao, J. Cook, M. Fernandez, M. Kostyk, S. Hubble, J. Campbell, A. Reider, C. Seward, A. Camicioli, R. Carter, J. Nutt, J. Andrews, P. Morehouse, S. Stone, C. Mendis, T. Grimes, D. Alcorn-Costa, C. Gray, P. Haas, K. Vendette, J. Sutton, J. Hutchinson, B. Young, J. Rajput, A. Klassen, L. Shirley, T. Manyam, B. Simpson, P. Whetteckey, J. Wulbrecht, B. Truong, D. Pathak, M. Frei, K. Luong, N. Tra, T. Tran, A. Vo, J. Lang, A. Kleiner-Fisman, G. Nieves, A. Johnston, L. So, J. Podskalny, G. Giffin, L. Atchison, P. Allen, C. Martin, W. Wieler, M. Suchowersky, O. Furtado, S. Klimek, M. Hermanowicz, N. Niswonger, S. Shults, C. Fontaine, D. Aminoff, M. Christine, C. Diminno, M. Hevezi, J. Dalvi, A. Kang, U. Richman, J. Uy, S. Sahay, A. Gartner, M. Schwieterman, D. Hall, D. Leehey, M. Culver, S. Derian, T. Demarcaida, T. Thurlow, S. Rodnitzky, R. Dobson, J. Lyons, K. Pahwa, R. Gales, T. Thomas, S. Shulman, L. Weiner, W. Dustin, K. Singer, C. Zelaya, L. Tuite, P. Hagen, V. Rolandelli, S. Schacherer, R. Kosowicz, J. Gordon, P. Werner, J. Serrano, C. Roque, S. Kurlan, R. Berry, D. Gardiner, I. Hauser, R. Sanchez-Ramos, J. Zesiewicz, T. Delgado, H. Price, K. Rodriguez, P. Wolfrath, S. Pfeiffer, R. Davis, L. Pfeiffer, B. Dewey, R. Hayward, B. Johnson, A. Meacham, M. Estes, B. Walker, F. Hunt, V. O'neill, C. Racette, B. Swisher, L. Dijamco, C. Conley, E.D. Dorfman, E. Tung, J.Y. Hinds, D.A. Mountain, J.L. Wojcicki, A. Lew, M. Klein, C. Golbe, L. Growdon, J. Wooten, G.F. Watts, R. Guttman, M. Goldwurm, S. Saint-Hilaire, M.H. Baker, K. Litvan, I. Nicholson, G. Nance, M. Drasby, E. Isaacson, S. Burn, D. Pramstaller, P. Al-Hinti, J. Moller, A. Sherman, S. Roxburgh, R. Slevin, J. Perlmutter, J. Mark, M.H. Huggins, N. Pezzoli, G. Massood, T. Itin, I. Corbett, A. Chinnery, P. Ostergaard, K. Snow, B. Cambi, F. Kay, D. Samii, A. Agarwal, P. Roberts, J.W. Higgins, D.S. Molho, E. Rosen, A. Montimurro, J. Martinez, E. Griffith, A. Kusel, V. Yearout, D. Factor, S. Zabetian, C. Clark, L.N. Liu, X. Lee, J.H. Cheng Taub, R. Louis, E.D. Cote, L.J. Waters, C. Ford, B. Fahn, S. Vance, J.M. Beecham, G.W. Martin, E.R. Nuytemans, K. Pericak-Vance, M.A. Haines, J.L. Destefano, A. Seshadri, S. Choi, S.H. Frank, S. Bis, J.C. Psaty, B.M. Rice, K. Longstreth, W.T., Jr. Ton, T.G.N. Jain, S. van Duijn, C.M. Uitterlinden, A.G. Verlinden, V.J. Koudstaal, P.J. Singleton, A. Cookson, M. Gibbs, J.R. Hernandez, D. Nalls, M. Zonderman, A. Ferrucci, L. Johnson, R. Longo, D. O'brien, R. Traynor, B. Troncoso, J. van der Brug, M. Zielke, R. Weale, M. Ramasamy, A. Dardiotis, E. Tsimourtou, V. Spanaki, C. Plaitakis, A. Bozi, M. Stefanis, L. Vassilatis, D. Koutsis, G. Panas, M. Hadjigeorgiou, G.M. Lunnon, K. Lupton, M. Powell, J. Parkkinen, L. Ansorge, O. International Parkinson's Disease Genomics Consortium (IPDGC) Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI) 23andMe GenePD NeuroGenetics Research Consortium (NGRC) Hussman Institute of Human Genomics (HIHG) The Ashkenazi Jewish Dataset Investigator Cohorts for Health Aging Research in Genetic Epidemiology (CHARGE) North American Brain Expression Consortium (NABEC) United Kingdom Brain Expression Consortium (UKBEC) Greek Parkinson's Disease Consortium Alzheimer Genetic Analysis Group
Abstract: We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide significant association; these and 6 additional previously reported loci were then tested in an independent set of 5,353 cases and 5,551 controls. Of the 32 tested SNPs, 24 replicated, including 6 newly identified loci. Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant. In total, we identified and replicated 28 independent risk variants for Parkinson's disease across 24 loci. Although the effect of each individual locus was small, risk profile analysis showed substantial cumulative risk in a comparison of the highest and lowest quintiles of genetic risk (odds ratio (OR) = 3.31, 95% confidence interval (CI) = 2.55-4.30; P = 2 × 10-16). We also show six risk loci associated with proximal gene expression or DNA methylation. © 2014 Nature America, Inc. All rights reserved.
Published: 2014

28. COHORT study of the HSG. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Author: Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, PREDICT-HD study of the Huntington Study Group (HSG), Landwehrmeyer GB, REGISTRY study of the European Huntington's Disease Network, Myers RH, and HD-MAPS Study Group, MacDonald ME, Gusella JF
Published: 2012

29. Population stratification may bias analysis of PGC-1alpha as amodifiewr of age at Huntington disease motor onset

Author: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME.
Published: 2012
Full Text: View/download PDF

30. Population stratification may bias analysis of PGC-1? as a modifier of age at Huntington disease motor onset

Author: Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, and Macdonald ME
Published: 2012

31. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

Author: Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J,Landwehrmeyer GB, Registry Study of the European Huntington's Disease Network, Shoulson I, and Huntington Study Group COHORT project, Myers RH, MacDonald ME, Gusella JF.
Published: 2012

32. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

Author: Djoussé, L., Knowlton, B., Hayden, M., Almqvist, E. W., Brinkman, R., Ross, C., Margolis, R., Rosenblatt, A., Durr, A., Dode, C., Morrison, P. J., Andrea Novelletto, Frontali, M., Trent, R. J. A., Mccusker, E., Gómez-Tortosa, E., Mayo, D., Jones, R., Zanko, A., Nance, M., Abramson, R., Suchowersky, O., Paulsen, J., Harrison, M., Yang, Q., Cupples, L. A., Gusella, J. F., Macdonald, M. E., and Myers, R. H.
Subjects: Adult, Aged, 80 and over, Adolescent, Middle Aged, Cohort Studies, Survival Rate, Huntington Disease, Trinucleotide Repeats, New England, Child, Preschool, Humans, Age of Onset, Child, Aged, Probability
Abstract: Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47-83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.
Published: 2003

33. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study

Author: Li JL, Hayden MR, Almqvist EW, Brinkman RR, Durr A, Dode C, Morrison PJ, Suchowersky O, Ross CA, Margolis RL, Rosenblatt A, Gomez-Tortosa E, Cabrero DM, Novelletto A, Frontali M, Nance M, Trent RJ, McCusker E, Jones R, Paulsen JS, Harrison M, and Zanko A
Abstract: Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD.
Published: 2003

34. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington’s disease

Author: Djoussé, L, Knowlton, B, Hayden, M, Almqvist, E, Brinkman, R, Ross, C, Margolis, R, Rosenblatt, A, Durr, A, Dode, C, Morrison, P, Novelletto, A, Frontali, M, Trent, R, Mccusker, E, Gòmez Tortosa, E, Mayo, D, Janes, R, Zanko, A, Nance, M, Abramson, R, Suchowersky, O, Paulsen, J, Harrison, M, Yang, Q, Cupples, L, Gusella, J, Macdonald, M, and Myers, R
Subjects: Settore BIO/18 - Genetica
Published: 2003

35. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

Author: Djousse L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, Margolis R, Rosenblatt A, Durr A, Dode C, Morrison PJ, Novelletto A, Frontali M, Trent RJ, McCusker E, Gomez-Tortosa E, Mayo D, Jones R, Zanko A, Nance M, Abramson R, Suchowersky O, and Paulsen
Subjects: congenital, hereditary, and neonatal diseases and abnormalities
Abstract: Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47-83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.
Published: 2003

36. A Genome Scan for Modifiers of Age at onset in Huntington's disease: The HD MAPS Study

Author: J. L, L, Hayden, M, Almqvist, E, Brinkman, R, Durr, A, Dodé, C, Morrison, P, Suchowersky, O, Ross, C, Margolis, R, Rosenblatt, A, Gómez, T, Mayo, E, Cabrero, D, Novelletto, A, Frontali, M, Nance, M, Trent, R, Mccusker, E, Jones, R, Paulsen, J, Harrison, M, Zanko, A, Abramson, R, Russ, A, Knowlton, B, Djoussé, L, Mysore, J, Tariot, S, Gusella, M, Wheeler, V, Atwood, L, Cupples, L, Saint Hilaire, M, Cha, Jh, Hersch, S, Koroshetz, W, Gusella, J, Macdonald, M, and Myers, R
Subjects: Settore BIO/18 - Genetica
Published: 2003

37. Mutations in BICD2, which encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Author: Neveling, K., Martinez-Carrera, L., Hölker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S.M., Gilissen, C.F.H.A., Vermeer, S., Pennings, M.C.P., Meijer, R., Riele, M.G.E. te, Frijns, C.J., Suchowersky, O., MacLaren, L., Rudnik-Schöneborn, S., Sinke, R.J., Zerres, K., Lowry, R.B., Lemmink, H.H., Garbes, L., Veltman, J.A., Schelhaas, H.J., Scheffer, H., Wirth, B., Neveling, K., Martinez-Carrera, L., Hölker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S.M., Gilissen, C.F.H.A., Vermeer, S., Pennings, M.C.P., Meijer, R., Riele, M.G.E. te, Frijns, C.J., Suchowersky, O., MacLaren, L., Rudnik-Schöneborn, S., Sinke, R.J., Zerres, K., Lowry, R.B., Lemmink, H.H., Garbes, L., Veltman, J.A., Schelhaas, H.J., Scheffer, H., and Wirth, B.
Abstract: Contains fulltext : 116576.pdf (publisher's version ) (Closed access)
Published: 2013

38. Management of the hospitalized patient with Parkinson's disease: Current state of the field and need for guidelines.

Author: Zamudio J., Oertel W.H., Oberdorf J., Okun M.S., Schmidt P., Aminoff M.J., Christine C.W., Friedman J.H., Chou K.L., Lyons K.E., Pahwa R., Bloem B.R., Parashos S.A., Price C.C., Malaty I.A., Iansek R., Bodis-Wollner I., Suchowersky O., Zamudio J., Oertel W.H., Oberdorf J., Okun M.S., Schmidt P., Aminoff M.J., Christine C.W., Friedman J.H., Chou K.L., Lyons K.E., Pahwa R., Bloem B.R., Parashos S.A., Price C.C., Malaty I.A., Iansek R., Bodis-Wollner I., and Suchowersky O.
Abstract: Objective: To review the literature and to identify practice gaps in the management of the hospitalized Parkinson's disease (PD) patient. Background(s): Patients with PD are admitted to hospitals at higher rates, and frequently have longer hospital stays than the general population. Little is known about outpatient interventions that might reduce the need for hospitalization and also reduce hospital-related complications. Method(s): A literature review was performed on PubMed about hospitalization and PD between 1970 and 2010. In addition, in press peer-reviewed papers or published abstracts known to the authors were included. Information was reviewed by a National Parkinson Foundation workgroup and a narrative review article was generated. Result(s): Motor disturbances in PD are believed to be a causal factor in the higher rates of admissions and complications. However, other conditions are commonly recorded as the primary reason for hospitalization including motor complications, reduced mobility, lack of compliance, inappropriate use of neuroleptics, falls, fractures, pneumonia, and other important medical problems. There are many relevant issues related to hospitalization in PD. Medications, dosages and specific dosage schedules are critical. Staff training regarding medications and medication management may help to avoid complications, particularly those related to reduced mobility, and aspiration pneumonia. Treatment of infections and a return to early mobility is also critical to management. Conclusion(s): Educational programs, recommendations, and guidelines are needed to better train interdisciplinary teams in the management of the PD patient. These initiatives have the potential for both cost savings and improved outcomes from a preventative and a hospital management standpoint. © 2010 Elsevier Ltd.
Published: 2012

39. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

Author: Lee, J-M, Ramos, E M, Lee, J-H, Gillis, T, Mysore, J S, Hayden, M R, Warby, S C, Morrison, P, Nance, M, Ross, C A, Margolis, R L, Squitieri, F, Orobello, S, Di Donato, S, Gomez-Tortosa, E, Ayuso, C, Suchowersky, O, Trent, R J A, McCusker, E, Novelletto, A, Frontali, M, Jones, R, Ashizawa, T, Frank, S, Saint-Hilaire, M H, Hersch, S M, Rosas, H D, Lucente, D, Harrison, M B, Zanko, A, Abramson, R K, Marder, K, Sequeiros, J, Paulsen, J S, Landwehrmeyer, G B, Myers, R H, MacDonald, M E, Gusella, J F, Hasholt, Lis Frydenreich, Nørremølle, Anne, Nielsen, Jørgen Erik, Lee, J-M, Ramos, E M, Lee, J-H, Gillis, T, Mysore, J S, Hayden, M R, Warby, S C, Morrison, P, Nance, M, Ross, C A, Margolis, R L, Squitieri, F, Orobello, S, Di Donato, S, Gomez-Tortosa, E, Ayuso, C, Suchowersky, O, Trent, R J A, McCusker, E, Novelletto, A, Frontali, M, Jones, R, Ashizawa, T, Frank, S, Saint-Hilaire, M H, Hersch, S M, Rosas, H D, Lucente, D, Harrison, M B, Zanko, A, Abramson, R K, Marder, K, Sequeiros, J, Paulsen, J S, Landwehrmeyer, G B, Myers, R H, MacDonald, M E, Gusella, J F, Hasholt, Lis Frydenreich, Nørremølle, Anne, and Nielsen, Jørgen Erik
Abstract: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.
Published: 2012

40. Management of the hospitalized patient with Parkinson's disease: current state of the field and need for guidelines

Author: Aminoff, M.J., Christine, C.W., Friedman, J.H., Chou, K.L., Lyons, K.E., Pahwa, R., Bloem, B.R., Parashos, S.A., Price, C.C., Malaty, I.A., Iansek, R., Bodis-Wollner, I., Suchowersky, O., Oertel, W.H., Zamudio, J., Oberdorf, J., Schmidt, P., Okun, M.S., Aminoff, M.J., Christine, C.W., Friedman, J.H., Chou, K.L., Lyons, K.E., Pahwa, R., Bloem, B.R., Parashos, S.A., Price, C.C., Malaty, I.A., Iansek, R., Bodis-Wollner, I., Suchowersky, O., Oertel, W.H., Zamudio, J., Oberdorf, J., Schmidt, P., and Okun, M.S.
Abstract: Item does not contain fulltext, OBJECTIVE: To review the literature and to identify practice gaps in the management of the hospitalized Parkinson's disease (PD) patient. BACKGROUND: Patients with PD are admitted to hospitals at higher rates, and frequently have longer hospital stays than the general population. Little is known about outpatient interventions that might reduce the need for hospitalization and also reduce hospital-related complications. METHODS: A literature review was performed on PubMed about hospitalization and PD between 1970 and 2010. In addition, in press peer-reviewed papers or published abstracts known to the authors were included. Information was reviewed by a National Parkinson Foundation workgroup and a narrative review article was generated. RESULTS: Motor disturbances in PD are believed to be a causal factor in the higher rates of admissions and complications. However, other conditions are commonly recorded as the primary reason for hospitalization including motor complications, reduced mobility, lack of compliance, inappropriate use of neuroleptics, falls, fractures, pneumonia, and other important medical problems. There are many relevant issues related to hospitalization in PD. Medications, dosages and specific dosage schedules are critical. Staff training regarding medications and medication management may help to avoid complications, particularly those related to reduced mobility, and aspiration pneumonia. Treatment of infections and a return to early mobility is also critical to management. CONCLUSIONS: Educational programs, recommendations, and guidelines are needed to better train interdisciplinary teams in the management of the PD patient. These initiatives have the potential for both cost savings and improved outcomes from a preventative and a hospital management standpoint.
Published: 2011

41. Hospitalization in Parkinson disease: a survey of National Parkinson Foundation Centers

Author: Chou, K.L., Zamudio, J., Schmidt, P., Price, C.C., Parashos, S.A., Bloem, B.R., Lyons, K.E., Christine, C.W., Pahwa, R., Bodis-Wollner, I., Oertel, W.H., Suchowersky, O., Aminoff, M.J., Malaty, I.A., Friedman, J.H., Okun, M.S., Chou, K.L., Zamudio, J., Schmidt, P., Price, C.C., Parashos, S.A., Bloem, B.R., Lyons, K.E., Christine, C.W., Pahwa, R., Bodis-Wollner, I., Oertel, W.H., Suchowersky, O., Aminoff, M.J., Malaty, I.A., Friedman, J.H., and Okun, M.S.
Abstract: Item does not contain fulltext, OBJECTIVES: To explore current practices and opinions regarding hospital management of Parkinson disease (PD) patients in specialized PD Centers. METHODS: Fifty-one out of 54 National Parkinson Foundation (NPF) Centers worldwide completed an online survey regarding hospitalization of PD patients. RESULTS: Many Centers were concerned about the quality of PD-specific care provided to their patients when hospitalized. Primary concerns were adherence to the outpatient medication schedule and poor understanding by hospital staff of medications that worsen PD. Few Centers had a policy with their primary hospital that notified them when their patients were admitted. Rather, notification of hospitalization came often from the patient or a family member. Several Centers (29%) reported not finding out about a hospitalization until a routine clinic visit after discharge. Quick access to outpatient PD care following discharge was a problem in many Centers. Elective surgery, fall/fracture, infection, and mental status changes, were identified as common reasons for hospitalization. CONCLUSIONS: There is a perceived need for PD specialists to be involved during hospitalization of their patients. Improvement in communication between hospitals and PD Centers is necessary so that hospital clinicians can take advantage of PD specialists' expertise. Education of hospital staff and clinicians regarding management of PD, complications of PD, and medications to avoid in PD is critical. Most importantly, outpatient access to PD specialists needs to be improved, which may prevent unnecessary hospitalizations in these patients.
Published: 2011

42. A long-term, open-label study of levodopa–/INS;carbidopa intestinal gel in advanced Parkinson's disease patients: Functional and health-related quality-of-life endpoints

Author: Standaert, D.G., primary, Fernandez, H.H., additional, Odin, P., additional, Hauser, R.A., additional, Espay, A.J., additional, Steiger, M., additional, Chouinard, S., additional, Suchowersky, O., additional, Yakupov, E., additional, Merikle, E.P., additional, Robieson, W.Z., additional, Chatamra, K., additional, and Benesh, J., additional
Published: 2013
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43. Evidence-based guideline: Pharmacologic treatment of chorea in Huntington disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology

Author: Suchowersky, O., primary, Armstrong, M. J., additional, and Miyasaki, J., additional
Published: 2013
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44. Practice parameter: initiation of treatment for Parkinson's disease: an evidence-based review: report of the Quality Standards Subcommittee of the American Academy of Neurology.

Author: Miyasaki JM, Martin W, Suchowersky O, Weiner WJ, Lang AE, American Academy of Neurology. Quality Standards Subcommittee, Miyasaki, J M, Martin, W, Suchowersky, O, Weiner, W J, and Lang, A E
Published: 2002
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45. Increased Intestinal Permeability and Parkinson Disease Patients: Chicken or Egg?

Author: Salat-Foix, D., primary, Tran, K., additional, Ranawaya, R., additional, Meddings, J., additional, and Suchowersky, O., additional
Published: 2012
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46. Gastrointestinal Symptoms in Parkinson Disease: Clinical Aspects and Management

Author: Salat-Foix, D., primary, Andrews, C. N., additional, Meddings, J., additional, and Suchowersky, O., additional
Published: 2011
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47. Outcomes of Patients with Parkinson Disease and Pathological Gambling

Author: Bharmal, A., primary, Lu, C., additional, Quickfall, J., additional, Crockford, D., additional, and Suchowersky, O., additional
Published: 2010
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48. 283 IS MUSIC A FEASIBLE AND EFFECTUAL CUEING TECHNIQUE FOR GAIT?

Author: de Bruin, N., primary, Kempster, C., additional, Doan, J., additional, Turnbull, G., additional, Suchowersky, O., additional, Hu, B., additional, and Brown, L., additional
Published: 2010
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49. Naturalistic evaluation of entacapone in patients with signs and symptoms ofL-dopa wearing-off

Author: Jog, M., primary, Panisset, M., additional, Suchowersky, O., additional, Réhel, B., additional, and Schecter, R., additional
Published: 2008
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50. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study

Author: Tobin, J. E., primary, Latourelle, J. C., additional, Lew, M. F., additional, Klein, C., additional, Suchowersky, O., additional, Shill, H. A., additional, Golbe, L. I., additional, Mark, M. H., additional, Growdon, J. H., additional, Wooten, G. F., additional, Racette, B. A., additional, Perlmutter, J. S., additional, Watts, R., additional, Guttman, M., additional, Baker, K. B., additional, Goldwurm, S., additional, Pezzoli, G., additional, Singer, C., additional, Saint-Hilaire, M. H., additional, Hendricks, A. E., additional, Williamson, S., additional, Nagle, M. W., additional, Wilk, J. B., additional, Massood, T., additional, Laramie, J. M., additional, DeStefano, A. L., additional, Litvan, I., additional, Nicholson, G., additional, Corbett, A., additional, Isaacson, S., additional, Burn, D. J., additional, Chinnery, P. F., additional, Pramstaller, P. P., additional, Sherman, S., additional, Al-hinti, J., additional, Drasby, E., additional, Nance, M., additional, Moller, A. T., additional, Ostergaard, K., additional, Roxburgh, R., additional, Snow, B., additional, Slevin, J. T., additional, Cambi, F., additional, Gusella, J. F., additional, and Myers, R. H., additional
Published: 2008
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