Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

Abstract

The epsilon-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 epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.

• Authors: 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
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 18 Issue 9 Pg. 1047-51 (Sep 2003) ISSN: 0885-3185 [Print] United States
• PMID: 14502674 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2003 Movement Disorder Society

Chemical References

• Cytoskeletal Proteins
• Membrane Glycoproteins
• Sarcoglycans

Topics

• Adolescent
• Adult
• Aged
• Cytoskeletal Proteins (analysis, genetics)
• Dystonic Disorders (genetics)
• Female
• Genetic Heterogeneity
• Humans
• Male
• Membrane Glycoproteins (analysis, genetics)
• Middle Aged
• Myoclonus (genetics)
• Pedigree
• Polymerase Chain Reaction
• Sampling Studies
• Sarcoglycans
• Syndrome