Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Enza Maria Valente, Anjum Misbahuddin, Francesco Brancati, Mark R. Placzek, Barbara Garavaglia, Sergio Salvi, Andrea Nemeth, Charles Shaw-Smith, Nardo Nardocci, Anna Rita Bentivoglio, Alfredo Berardelli, Roberto Eleopra, Bruno Dallapiccola, Thomas T. Warner

Research output: Contribution to journalArticlepeer-review

Abstract

The ε-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the ε-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that ε-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.

Original languageEnglish
Pages (from-to)1047-1051
Number of pages5
JournalMovement Disorders
Volume18
Issue number9
DOIs
Publication statusPublished - Sep 1 2003

Keywords

  • ε-sarcoglycan
  • Dystonia
  • Genetic heterogeneity
  • Myoclonus
  • Myoclonus-dystonia syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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