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

doi:10.1002/mds.10476

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 journal › Article › peer-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 language	English
Pages (from-to)	1047-1051
Number of pages	5
Journal	Movement Disorders
Volume	18
Issue number	9
DOIs	https://doi.org/10.1002/mds.10476
Publication status	Published - 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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Valente, E. M., Misbahuddin, A., Brancati, F., Placzek, M. R., Garavaglia, B., Salvi, S., Nemeth, A., Shaw-Smith, C., Nardocci, N., Bentivoglio, A. R., Berardelli, A., Eleopra, R., Dallapiccola, B., & Warner, T. T. (2003). Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity. Movement Disorders, 18(9), 1047-1051. https://doi.org/10.1002/mds.10476

Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia : Evidence for genetic heterogeneity. / Valente, Enza Maria; Misbahuddin, Anjum; Brancati, Francesco; Placzek, Mark R.; Garavaglia, Barbara; Salvi, Sergio; Nemeth, Andrea; Shaw-Smith, Charles; Nardocci, Nardo; Bentivoglio, Anna Rita; Berardelli, Alfredo; Eleopra, Roberto; Dallapiccola, Bruno; Warner, Thomas T.

In: Movement Disorders, Vol. 18, No. 9, 01.09.2003, p. 1047-1051.

Research output: Contribution to journal › Article › peer-review

Valente, EM, Misbahuddin, A, Brancati, F, Placzek, MR, Garavaglia, B, Salvi, S, Nemeth, A, Shaw-Smith, C, Nardocci, N, Bentivoglio, AR, Berardelli, A, Eleopra, R, Dallapiccola, B & Warner, TT 2003, 'Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity', Movement Disorders, vol. 18, no. 9, pp. 1047-1051. https://doi.org/10.1002/mds.10476

Valente, Enza Maria ; Misbahuddin, Anjum ; Brancati, Francesco ; Placzek, Mark R. ; Garavaglia, Barbara ; Salvi, Sergio ; Nemeth, Andrea ; Shaw-Smith, Charles ; Nardocci, Nardo ; Bentivoglio, Anna Rita ; Berardelli, Alfredo ; Eleopra, Roberto ; Dallapiccola, Bruno ; Warner, Thomas T. / Analysis of the ε-sarcoglycan gene in familial and sporadic myoclonus-dystonia : Evidence for genetic heterogeneity. In: Movement Disorders. 2003 ; Vol. 18, No. 9. pp. 1047-1051.

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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.",

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