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363 results on '"Berry-Kravis, E."'

1. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

Author

Berry-Kravis, E, Hessl, D, Coffey, S, Hervey, C, Schneider, A, Yuhas, J, Hutchison, J, Snape, M, Tranfaglia, M, Nguyen, DV, and Hagerman, R

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Clinical Research, Fragile X Syndrome, Clinical Trials and Supportive Activities, Mental Health, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Administration, Oral, Adolescent, Adult, Chromatography, Liquid, Female, Humans, Imidazoles, Inhibition, Psychological, Male, Mass Spectrometry, Neural Inhibition, Neuropsychological Tests, Pilot Projects, Receptor, Metabotropic Glutamate 5, Receptors, Metabotropic Glutamate, Young Adult, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences
Abstract

ObjectiveA pilot open label, single dose trial of fenobam, an mGluR5 antagonist, was conducted to provide an initial evaluation of safety and pharmacokinetics in adult males and females with fragile X syndrome (FXS).MethodsTwelve subjects, recruited from two fragile X clinics, received a single oral dose of 50-150 mg of fenobam. Blood for pharmacokinetic testing, vital signs and side effect screening was obtained at baseline and numerous time points for 6 h after dosing. Outcome measures included prepulse inhibition (PPI) and a continuous performance test (CPT) obtained before and after dosing to explore the effects of fenobam on core phenotypic measures of sensory gating, attention and inhibition.ResultsThere were no significant adverse reactions to fenobam administration. Pharmacokinetic analysis showed that fenobam concentrations were dose dependent but variable, with mean (SEM) peak values of 39.7 (18.4) ng/ml at 180 min after the 150 mg dose. PPI met a response criterion of an improvement of at least 20% over baseline in 6 of 12 individuals (4/6 males and 2/6 females). The CPT did not display improvement with treatment due to ceiling effects.ConclusionsClinically significant adverse effects were not identified in this study of single dose fenobam across the range of dosages utilised. The positive effects seen in animal models of FXS treated with fenobam or other mGluR5 antagonists, the apparent lack of clinically significant adverse effects, and the potential beneficial clinical effects seen in this pilot trial support further study of the compound in adults with FXS.

Published
2009

2. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.

Author

Levy, T., Siper, P.M., Lerman, B., Halpern, D., Zweifach, J., Belani, P., Thurm, A., Kleefstra, T., Berry-Kravis, E., Buxbaum, J.D., Grice, D.E., Levy, T., Siper, P.M., Lerman, B., Halpern, D., Zweifach, J., Belani, P., Thurm, A., Kleefstra, T., Berry-Kravis, E., Buxbaum, J.D., and Grice, D.E.

Abstract

01 januari 2023, Item does not contain fulltext, DDX3X syndrome is a surprisingly common newly discovered genetic neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, language delays, attention-deficit/hyperactivity disorder, and medical comorbidities. Two hundred individuals with DDX3X syndrome have been described in the literature to date, with varied levels of detail. Individuals with DDX3X syndrome often have complex presentations including symptoms in the neurological, psychiatric/psychological, ophthalmologic, and gastrointestinal domains. Owing to this complex presentation, an overview of symptom prevalence, medical recommendations, and suggested medical surveillance is vital for the care and health of individuals with DDX3X syndrome. In this article, we summarize the present clinical knowledge of DDX3X syndrome and provide recommendations for clinical assessments and care based on a comprehensive review of the existing literature and of new, not yet published DDX3X syndrome cohorts. As more is learned about DDX3X syndrome, we anticipate that these recommendations will evolve.

Published
2023

3. A Comparative Neuropsychological Test Battery Differentiates Cognitive Signatures of Fragile X and Down Syndrome

Author

Kogan, C. S., Boutet, I., Cornish, K., Graham, G. E., Berry-Kravis, E., Drouin, A., and Milgram, N. W.

Abstract

Background: Standardised neuropsychological and cognitive measures present some limitations in their applicability and generalisability to individuals with intellectual disability (ID). Alternative approaches to defining the cognitive signatures of various forms of ID are needed to advance our understanding of the profiles of strengths and weaknesses as well as the affected brain areas. Aim: To evaluate the utility and feasibility of six non-verbal comparative neuropsychological (CN) tasks administered in a modified version of the Wisconsin General Test Apparatus (WGTA) to confirm and extend our knowledge of unique cognitive signatures of Fragile X syndrome (FXS) and Down syndrome (DS). Method: A test battery of CN tasks adapted from the animal literature was administered in a modified WGTA. Tasks were selected that have established or emerging brain-behaviour relationships in the domains of visual-perceptual, visual-spatial, working memory and inhibition. Results: Despite the fact that these tasks revealed cognitive signatures for the two ID groups, only some hypotheses were supported. Results suggest that whereas individuals with DS were relatively impaired on visual-perceptual and visual-spatial reversal learning tasks they showed strengths in egocentric spatial learning and object discrimination tasks. Individuals with FXS were relatively impaired on object discrimination learning and reversal tasks, which was attributable to side preferences. In contrast, these same individuals exhibited strengths in egocentric spatial learning and reversal tasks as well as on an object recognition memory task. Both ID groups demonstrated relatively poor performance for a visual-spatial working memory task. Conclusion: Performance on the modified WGTA tasks differentiated cognitive signatures between two of the most common forms of ID. Results are discussed in the context of the literature on the cognitive and neurobiological features of FXS and DS.

Published
2009
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5. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Author

Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K., SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michael, R. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, C., Peeters, H., Gecz, J., and Xia, K.

Subjects
0301 basic medicine, Male, CCCTC-Binding Factor, Transcription Factor, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, General Physics and Astronomy, RNA-Binding Protein, Heterogeneous-Nuclear Ribonucleoprotein U, VARIANTS, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorder, Basic Helix-Loop-Helix Transcription Factors, SPARK Consortium, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, lcsh:Science, GABRG2, Genetics, Mutation, Multidisciplinary, biology, Neurodevelopmental disorders, RNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Multidisciplinary Sciences, DNA-Binding Proteins, Science & Technology - Other Topics, Female, Case-Control Studie, Engineering sciences. Technology, Human, Science, DNA-Binding Protein, Genetic Association Studie, COPY-NUMBER VARIATION, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, KCNQ3 Potassium Channel, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, AUTISM, Gene, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, DISABILITY, Prevention, Case-control study, General Chemistry, Repressor Protein, medicine.disease, FRAMEWORK, Repressor Proteins, DE-NOVO MUTATION, 030104 developmental biology, CTCF, Neurodevelopmental Disorders, Case-Control Studies, biology.protein, Next-generation sequencing, Autism, lcsh:Q, Cohort Studie, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases and an additional 62 genes in 6,211 NDD cases. By combining these with published data, we assess a total of 125 genes in over 16,000 NDD cases and compare the mutation burden to nonpsychiatric controls from ExAC. We identify 48 genes (25 newly reported) showing significant burden of ultra-rare (MAF, For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Published
2020

8. Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders (Nature Communications, (2020), 11, 1, (4932), 10.1038/s41467-020-18723-y)

Author

Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., and Xia, K.

Published
2020

12. The apolipoprotein E €2 allele and decline in episodic memory. (Paper)

Author

Wilson, R.S., Bienias, J.L., Berry-Kravis, E., Evans, D.A., and Bennett, D.A.

Subjects
Memory -- Physiological aspects -- Research -- Psychological aspects, Apolipoproteins -- Psychological aspects -- Physiological aspects -- Research, Alzheimer's disease -- Physiological aspects -- Research, Health, Psychology and mental health, Psychological aspects, Physiological aspects, Research
Abstract

Objectives: The apolipoprotein E (apoE) ∈4 allele is related to decline in multiple cognitive domains, especially episodic memory, but the effect of the ∈2 allele on change in different forms [...]

Published
2002

13. Paired-Like Homeobox Gene PHOX2B Non-Polyalanine Repeat Expansion Mutations: Genotype-Phenotype Correlation in Congenital Central Hypoventilation Syndrome and Later Onset-CCHS

Author

Hockney, S., primary, Zhou, A., additional, Niewijk, G., additional, Rand, C., additional, Reineke, P., additional, Speare, V., additional, Berry-Kravis, E., additional, Zhou, L., additional, Jennings, L., additional, Yu, M., additional, Ceccherini, I., additional, Yap, K., additional, and Weese-Mayer, D.E., additional

Published
2020
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18. SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Author

Feliciano, P, Daniels, AM, Green Snyder, LA, Beaumont, A, Camba, A, Esler, A, Gulsrud, AG, Mason, A, Gutierrez, A, Nicholson, A, Paolicelli, AM, McKenzie, AP, Rachubinski, AL, Stephens, AN, Simon, AR, Stedman, A, Shocklee, AD, Swanson, A, Finucane, B, Hilscher, BA, Hauf, B, O'Roak, BJ, McKenna, B, Robertson, BE, Rodriguez, B, Vernoia, BM, Van Metre, B, Bradley, C, Cohen, C, Erickson, CA, Harkins, C, Hayes, C, Lord, C, Martin, CL, Ortiz, C, Ochoa-Lubinoff, C, Peura, C, Rice, CE, Rosenberg, CR, Smith, CJ, Thomas, C, Taylor, CM, White, LC, Walston, CH, Amaral, DG, Coury, DL, Sarver, DE, Istephanous, D, Li, D, Nugyen, DC, Fox, EA, Butter, EM, Berry-Kravis, E, Courchesne, E, Fombonne, EJ, Hofammann, E, Lamarche, E, Wodka, EL, Matthews, ET, O'Connor, E, Palen, E, Miller, F, Dichter, GS, Marzano, G, Stein, G, Hutter, H, Kaplan, HE, Li, H, Lechniak, H, Schneider, HL, Zaydens, H, Arriaga, I, Gerdts, JA, Cubells, JF, Cordova, JM, Gunderson, J, Lillard, J, Manoharan, J, McCracken, JT, Michaelson, JJ, Neely, J, Orobio, J, Pandey, J, Piven, J, Scherr, J, Sutcliffe, JS, Tjernagel, J, Wallace, J, Callahan, K, Dent, K, Schweers, KA, Hamer, KE, Law, JK, Lowe, K, O'Brien, K, Smith, K, Pawlowski, KG, Pierce, KL, Roeder, K, and Abbeduto, LJ

Abstract

© 2018 Elsevier Inc. The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD. The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.

Published
2018

20. Utility of the Hebb–Williams maze paradigm for translational research in Fragile X syndrome: A direct comparison of mice and humans

Author

Boutet, I. (Isabelle), Collin, C.A. (Charles A.), Macleod, L.S. (Lindsey S.), Messier, C. (Claude), Holahan, M.R. (Matthew R.), Berry-Kravis, E. (Elizabeth), Gandhi, R.M. (Reno M.), Kogan, C.S. (Cary S.), Boutet, I. (Isabelle), Collin, C.A. (Charles A.), Macleod, L.S. (Lindsey S.), Messier, C. (Claude), Holahan, M.R. (Matthew R.), Berry-Kravis, E. (Elizabeth), Gandhi, R.M. (Reno M.), and Kogan, C.S. (Cary S.)

Abstract

To generate meaningful information, translational research must employ paradigms that allow extrapolation from animal models to humans. However, few studies have evaluated translational paradigms on the basis of defined validation criteria. We outline three criteria for validating translational paradigms. We then evaluate the Hebb–Williams maze paradigm (Hebb and Williams, 1946; Rabinovitch and Rosvold, 1951) on the basis of these criteria using Fragile X syndrome (FXS) as model disease. We focused

Published
2018
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21. Erratum: Emerging topics in FXTAS.

Author

Hall, DA, Birch, RC, Anheim, M, Jønch, AE, Pintado, E, O'Keefe, JA, Trollor, JN, Stebbins, GT, Hagerman, RJ, Fahn, S, Berry-Kravis, E, Leehey, MA, Hall, DA, Birch, RC, Anheim, M, Jønch, AE, Pintado, E, O'Keefe, JA, Trollor, JN, Stebbins, GT, Hagerman, RJ, Fahn, S, Berry-Kravis, E, and Leehey, MA

Abstract

[This corrects the article DOI: 10.1186/1866-1955-6-31.].

Published
2015

22. The challenges of clinical trials in fragile X syndrome

Author

Jacquemont, S., Berry-Kravis, E., Hagerman, R., von Raison, F., Gasparini, F., Apostol, G., Ufer, M., Des Portes, V., and Gomez-Mancilla, B.

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Child Development Disorders, Pervasive/drug therapy, Child Development Disorders, Pervasive/physiopathology, Clinical Trials as Topic/methods, Fragile X Syndrome/diagnosis, Fragile X Syndrome/drug therapy, Fragile X Syndrome/genetics, Fragile X Syndrome/physiopathology
Abstract

RATIONALE: Advances in understanding the underlying mechanisms of conditions such as fragile X syndrome (FXS) and autism spectrum disorders have revealed heterogeneous populations. Recent trials of novel FXS therapies have highlighted several challenges including subpopulations with possibly differential therapeutic responses, the lack of specific outcome measures capturing the full range of improvements of patients with FXS, and a lack of biomarkers that can track whether a specific mechanism is responsive to a new drug and whether the response correlates with clinical improvement. OBJECTIVES: We review the phenotypic heterogeneity of FXS and the implications for clinical research in FXS and other neurodevelopmental disorders. RESULTS: Residual levels of fragile X mental retardation protein (FMRP) expression explain in part the heterogeneity in the FXS phenotype; studies indicate a correlation with both cognitive and behavioral deficits. However, this does not fully explain the extent of phenotypic variance observed or the variability of drug response. Post hoc analyses of studies involving the selective mGluR5 antagonist mavoglurant and the GABAB agonist arbaclofen have uncovered significant therapeutic responses following patient stratification according to FMR1 promoter methylation patterns or baseline severity of social withdrawal, respectively. Future studies designed to quantify disease modification will need to develop new strategies to track changes effectively over time and in multiple symptom domains. CONCLUSION: Appropriate selection of patients and outcome measures is central to optimizing future clinical investigations of these complex disorders.

Published
2013

23. Neurological and endocrine phenotypes of fragile X carrier women

Author

Hall, D., primary, Todorova-Koteva, K., additional, Pandya, S., additional, Bernard, B., additional, Ouyang, B., additional, Walsh, M., additional, Pounardjian, T., additional, Deburghraeve, C., additional, Zhou, L., additional, Losh, M., additional, Leehey, M., additional, and Berry-Kravis, E., additional

Published
2015
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25. Emerging topics in FXTAS

Author

Hall, DA, Birch, RC, Anheim, M, Jønch, AE, Pintado, E, O'Keefe, J, Trollor, JN, Stebbins, GT, Hagerman, RJ, Fahn, S, Berry-Kravis, E, Leehey, MA, Hall, DA, Birch, RC, Anheim, M, Jønch, AE, Pintado, E, O'Keefe, J, Trollor, JN, Stebbins, GT, Hagerman, RJ, Fahn, S, Berry-Kravis, E, and Leehey, MA

Abstract

This paper summarizes key emerging issues in fragile X-associated tremor/ataxia syndrome (FXTAS) as presented at the First International Conference on the FMR1 Premutation: Basic Mechanisms & Clinical Involvement in 2013.

Published
2014

26. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Author

Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., Peirano, R.I., Heusel, J., Desphande, C., Gupta, N., Nanda, A., Felix, E., Berry-Kravis, E., Kabra, M., Wevers, R.A., van Maldergem, L., Mundlos, S., Morava, E., Kornak, U., Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., Daumer-Haas, C., Phadke, S., Peirano, R.I., Heusel, J., Desphande, C., Gupta, N., Nanda, A., Felix, E., Berry-Kravis, E., Kabra, M., Wevers, R.A., van Maldergem, L., Mundlos, S., Morava, E., and Kornak, U.

Abstract

Contains fulltext : 107965.pdf (publisher's version ) (Closed access), Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debre type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane fusion. Here, we describe a highly variable phenotype in 13 patients with ARCL2, including the oldest affected individual described so far, who showed strikingly progressive dysmorphic features and heterotopic calcifications. In these individuals we identified 17 ATP6V0A2 mutations, 14 of which are novel. Furthermore, we demonstrate a localization of ATP6V0A2 at the Golgi-apparatus and a loss of the mutated ATP6V0A2 protein in patients' dermal fibroblasts. Investigation of brefeldin A-induced Golgi collapse in dermal fibroblasts as well as in HeLa cells deficient for ATP6V0A2 revealed a delay, which was absent in cells deficient for the ARCL-associated proteins GORAB or PYCR1. Furthermore, fibroblasts from patients with ATP6V0A2 mutations displayed elevated TGF-beta signalling and increased TGF-beta1 levels in the supernatant. Our current findings expand the genetic and phenotypic spectrum and suggest that, besides the known glycosylation defect, alterations in trafficking and signalling processes are potential key events in the pathogenesis of ATP6V0A2-related ARCL.

Published
2012

27. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056

Author

Neri, Giovanni, Jacquemont, S, Curie, A, Des Portes, V, Torrioli, Mg, Berry Kravis, E, Hagerman, Rj, Ramos, Fj, Cornish, K, He, Y, Paulding, C, Chen, F, Hadjikhani, N, Martinet, D, Meyer, J, Beckmann, J, Delange, K, Brun, A, Bussy, G, Gasparini, F, Hilse, T, Floesser, A, Branson, J, Bilbe, G, Johns, D, Gomez Mancilla, B., Beckmann, Js, Neri, Giovanni, Jacquemont, S, Curie, A, Des Portes, V, Torrioli, Mg, Berry Kravis, E, Hagerman, Rj, Ramos, Fj, Cornish, K, He, Y, Paulding, C, Chen, F, Hadjikhani, N, Martinet, D, Meyer, J, Beckmann, J, Delange, K, Brun, A, Bussy, G, Gasparini, F, Hilse, T, Floesser, A, Branson, J, Bilbe, G, Johns, D, Gomez Mancilla, B., and Beckmann, Js

Abstract

Fragile X syndrome (FXS) is an X-linked condition associated with intellectual disability and behavioral problems. It is caused by expansion of a CGG repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. This mutation is associated with hypermethylation at the FMR1 promoter and resultant transcriptional silencing. FMR1 silencing has many consequences, including up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling. mGluR5 receptor antagonists have shown promise in preclinical FXS models and in one small open-label study of FXS. We examined whether a receptor subtype-selective inhibitor of mGluR5, AFQ056, improves the behavioral symptoms of FXS in a randomized, double-blind, two-treatment, two-period, crossover study of 30 male FXS patients aged 18 to 35 years. We detected no significant effects of treatment on the primary outcome measure, the Aberrant Behavior Checklist-Community Edition (ABC-C) score, at day 19 or 20 of treatment. In an exploratory analysis, however, seven patients with full FMR1 promoter methylation and no detectable FMR1 messenger RNA improved, as measured with the ABC-C, significantly more after AFQ056 treatment than with placebo (P < 0.001). We detected no response in 18 patients with partial promoter methylation. Twenty-four patients experienced an adverse event, which was mostly mild to moderately severe fatigue or headache. If confirmed in larger and longer-term studies, these results suggest that blockade of the mGluR5 receptor in patients with full methylation at the FMR1 promoter may show improvement in the behavioral attributes of FXS.

Published
2011

28. Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome-Like Phenotype

Author

Collins, SC, Coffee, B, Benke, PJ, Berry-Kravis, E, Gilbert, F, Oostra, Ben, Halley, Dicky, Zwick, ME, Cutler, DJ, Warren, ST, Collins, SC, Coffee, B, Benke, PJ, Berry-Kravis, E, Gilbert, F, Oostra, Ben, Halley, Dicky, Zwick, ME, Cutler, DJ, and Warren, ST

Abstract

Background: Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract. Methodology/Principal Findings: To more thoroughly evaluate the frequency of conventional mutations in FXS-like patients, we used an array-based method to sequence FMR1 in 51 unrelated males exhibiting several features characteristic of FXS but with normal CGG-repeat tracts of FMR1. One patient was identified with a deletion in FMR1, but none of the patients were found to have other conventional mutations. Conclusions/Significance: These data suggest that missense mutations in FMR1 are not a common cause of the FXS phenotype in patients who have normal-length CGG-repeat tracts. However, screening for small deletions of FMR1 may be of clinically utility.

Published
2010

30. New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

Author

Hogarth, P., primary, Gregory, A., additional, Kruer, M. C., additional, Sanford, L., additional, Wagoner, W., additional, Natowicz, M. R., additional, Egel, R. T., additional, Subramony, S. H., additional, Goldman, J. G., additional, Berry-Kravis, E., additional, Foulds, N. C., additional, Hammans, S. R., additional, Desguerre, I., additional, Rodriguez, D., additional, Wilson, C., additional, Diedrich, A., additional, Green, S., additional, Tran, H., additional, Reese, L., additional, Woltjer, R. L., additional, and Hayflick, S. J., additional

Published
2012
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39. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers

Author

Leehey, M. A., primary, Berry-Kravis, E., additional, Goetz, C. G., additional, Zhang, L., additional, Hall, D. A., additional, Li, L., additional, Rice, C. D., additional, Lara, R., additional, Cogswell, J., additional, Reynolds, A., additional, Gane, L., additional, Jacquemont, S., additional, Tassone, F., additional, Grigsby, J., additional, Hagerman, R. J., additional, and Hagerman, P. J., additional

Published
2007
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41. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Author

Sheen, V. L., primary, Jansen, A., additional, Chen, M. H., additional, Parrini, E., additional, Morgan, T., additional, Ravenscroft, R., additional, Ganesh, V., additional, Underwood, T., additional, Wiley, J., additional, Leventer, R., additional, Vaid, R. R., additional, Ruiz, D. E., additional, Hutchins, G. M., additional, Menasha, J., additional, Willner, J., additional, Geng, Y., additional, Gripp, K. W., additional, Nicholson, L., additional, Berry-Kravis, E., additional, Bodell, A., additional, Apse, K., additional, Hill, R. S., additional, Dubeau, F., additional, Andermann, F., additional, Barkovich, J., additional, Andermann, E., additional, Shugart, Y. Y., additional, Thomas, P., additional, Viri, M., additional, Veggiotti, P., additional, Robertson, S., additional, Guerrini, R., additional, and Walsh, C. A., additional

Published
2005
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42. Aging in Individuals With the FMR1 Mutation

Author

Jacquemont, S., primary, Farzin, F., additional, Hall, D., additional, Leehey, M., additional, Tassone, F., additional, Gane, L., additional, Zhang, L., additional, Grigsby, J., additional, Jardini, T., additional, Lewin, F., additional, Berry-Kravis, E., additional, Hagerman, P. J., additional, and Hagerman, R. J., additional

Published
2004
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48. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for Fragile X-associated disorders.

Author

McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, and Hagerman RJ

Abstract

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues. [ABSTRACT FROM AUTHOR]

Published
2007
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50. The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment.

Author

Aggarwal NT, Wilson RS, Beck TL, Bienias JL, Berry-Kravis E, and Bennett DA

Abstract

Possession of one or more copies of the apolipoprotein E (APOE) epsilon4 allele is a known risk factor for Alzheimer's disease (AD), but it is uncertain whether the epsilon4 allele is associated with disease incidence among persons with mild cognitive impairment (MCI). We addressed this issue with data from the Religious Orders Study. Participants were 181 older Catholic clergy members who met criteria for MCI based on a uniform structured clinical evaluation; 56 (30.9%) had at least one epsilon4 allele. Clinical evaluations, which included clinical classification of dementia and AD, were repeated annually. During a mean of 5.7 years of observation, 79 persons (43.6%) developed AD. In a proportional hazards model that controlled for age, sex, and education, possession of an epsilon4 allele was associated with a 93% increase in the risk of developing Alzheimer's disease (95% CI; 1.02, 2.63). There was a marginally significant reduction in the effect of epsilon4 in older compared to younger participants (p=.053). The results suggest that possession of an epsilon4 allele does increase risk of AD in persons with MCI. [ABSTRACT FROM AUTHOR]

Published
2005
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