The epsilon-sarcoglycan gene in myoclonic syndromes

• Published in: Neurology Vol. 64; no. 4; pp. 737 - 739
• Main Authors: VALENTE, E. M, EDWARDS, M. J, QUINN, N, DALLAPICCOLA, B, BHATIA, K. P, MIR, P, DIGIORGIO, A, SALVI, S, DAVIS, M, RUSSO, N, BOZI, M, KIM, H.-T, PENNISI, G
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 22-02-2005
• Subjects: Age of Onset; Amino Acid Substitution; Biological and medical sciences; Child; Child, Preschool; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dystonic Disorders - epidemiology; Dystonic Disorders - genetics; Exons - genetics; Female; Follow-Up Studies; Genes, Dominant; Genetic Testing; Genotype; Humans; Infant; Male; Malformations of the nervous system; Medical sciences; Mutation, Missense; Myoclonus - epidemiology; Myoclonus - genetics; Neurology; Phenotype; Point Mutation; RNA Splice Sites - genetics; Sarcoglycans - genetics; Sarcoglycans - physiology; Sequence Deletion; Nervous system diseases
• ISSN: 0028-3878; 1526-632X
• DOI: 10.1212/01.WNL.0000151979.68010.9B

Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.