Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Phenotypic spectrum and sex effects in eleven myoclonus‐dystonia families with ε‐sarcoglycan mutations

Authors:	Deborah Raymond MS Rachel Saunders‐Pullman MD MPH Patricia de Carvalho Aguiar MD PhD Birgitt Schule MD Norman Kock MD Jennifer Friedman MD Juliette Harris PhD Blair Ford MD Steven Frucht MD Gary A. Heiman PhD Danna Jennings MD Dana Doheny MS Mitchell F. Brin MD Deborah de Leon Brin MS Trisha Multhaupt‐Buell MS Anthony E. Lang MD Roger Kurlan MD Christine Klein MD PhD Laurie Ozelius PhD Susan Bressman MD

Affiliation:	1. The Alan and Barbara Mirken Department of Neurology, Beth Israel Medical Center, New York, New York;2. Department of Neurology, Albert Einstein College of Medicine, Bronx, New York;3. Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Sao Paulo, Brazil;4. Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, Brazil;5. Department of Clinical Research, The Parkinson's Institute, Sunnyvale, California;6. Departments of Neurology and Human Genetics, University of Luebeck, Luebeck, Germany;7. Department of Neurology, Rady Children's Hospital, San Diego, California;8. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts;9. Department of Neurology, Columbia University, New York, New York;10. Department of Genetics, Rutgers University, Piscataway, New Jersey;11. The Institute for Neurodegenerative Disorders, New Haven, Connecticut;12. Department of Human Genetics, Mount Sinai School of Medicine, New York, New York;13. University of California, Irvine & Allergan, LLC, Irvine, California;14. University of Toronto Department of Medicine (Neurology), Toronto Western Hospital, Toronto, Canada;15. Department of Neurology, University of Rochester Medical Center, Rochester, New York;16. Department of Genetics and Genome Sciences, Mount Sinai School of Medicine, New York, New York

Abstract:	Myoclonus‐dystonia (M‐D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype. © 2007 Movement Disorder Society

Keywords:	myoclonus dystonia epsilon‐sarcoglycan SGCE phenotype

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