Author(s):
|
Ritz, K.; Gerrits, M.C.; Foncke, E.M.;
Ruissen, F. van
; Linden, C. van der; Vergouwen, M.D.;
Bloem, B.R.
; Vandenberghe, W.; Crols, R.; Speelman, J.D.; Baas, F.; Tijssen, M.A.
|
Subject:
|
DCN 1: Perception and Action |
Organization:
|
Dermatology Neurology Donders Centre for Cognitive Neuroimaging |
Former Organization:
|
F.C. Donders Centre for Cognitive Neuroimaging
|
Journal title:
|
Journal of Neurology, Neurosurgery, and Psychiatry
|
Abstract:
|
BACKGROUND: Myoclonus-dystonia (M-D) is an autosomal dominant inherited movement disorder. Various mutations within the epsilon-sarcoglycan (SGCE) gene have been associated with M-D, but mutations are detected in only about 30% of patients. The lack of stringent clinical inclusion criteria and limitations of mutation screens by direct sequencing might explain this observation. METHODS: Eighty-six M-D index patients from the Dutch national referral centre for M-D underwent neurological examination and were classified according to previously published criteria into definite, probable and possible M-D. Sequence analysis of the SGCE gene and screening for copy number variations were performed. In addition, screening was carried out for the 3 bp deletion in exon 5 of the DYT1 gene. RESULTS: Based on clinical examination, 24 definite, 23 probable and 39 possible M-D patients were detected. Thirteen of the 86 M-D index patients carried a SGCE mutation: seven nonsense mutations, two splice site mutations, three missense mutations (two within one patient) and one multiexonic deletion. In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%). One possible M-D patient showed a 4 bp deletion in the DYT1 gene (c.934_937delAGAG). CONCLUSIONS: Mutation carriers were mainly identified in the definite M-D group. However, in half of definite M-D cases, no mutation could be identified. Copy-number variations did not play a major role in the large cohort.
|