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

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

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)588-592
Number of pages5
JournalMovement Disorders
Volume23
Issue number4
DOIs
StatePublished - Mar 15 2008

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Keywords

  • Epsilon-sarcoglycan
  • Myoclonus dystonia
  • Phenotype
  • SGCE

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