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Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
Author(s) -
Valente EnzaMaria,
Misbahuddin Anjum,
Brancati Francesco,
Placzek Mark R.,
Garavaglia Barbara,
Salvi Sergio,
Nemeth Andrea,
ShawSmith Charles,
Nardocci Nardo,
Bentivoglio AnnaRita,
Berardelli Alfredo,
Eleopra Roberto,
Dallapiccola Bruno,
Warner Thomas T.
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10476
Subject(s) - myoclonus , dystonia , genetics , locus (genetics) , genetic heterogeneity , biology , genetic linkage , gene , neuroscience , phenotype
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. © 2003 Movement Disorder Society