Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
Authors:
- Nardo NardocciNNNardo Nardocci
- Chiara BarzaghiCBChiara Barzaghi
- Claudia CianoCCClaudia Ciano
- Daniele GhezziDaniele Ghezzi
- Barbara GaravagliaBGBarbara Garavaglia
Open Access
- 25 January 2008
- journal article
- research article
- Published by Wiley in Movement Disorders
- Vol. 23 (1) , 28-34
Abstract
Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder SocietyKeywords
Funding Information
- ALDEI Foundation
- National Ministry of Health
- Paolo Zorzi Association
This publication has 19 references indexed in Scilit:
- Phenotype-genotype correlation in Dutch patients with myoclonus-dystoniaNeurology, 2006
- Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromesJournal of Medical Genetics, 2005
- The epsilon-sarcoglycan gene in myoclonic syndromesNeurology, 2005
- Genetic heterogeneity in ten families with myoclonus-dystoniaJournal of Neurology, Neurosurgery & Psychiatry, 2004
- Myoclonus–dystonia: Detection of novel, recurrent, and de novo SGCE mutationsNeurology, 2004
- Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneityMovement Disorders, 2003
- ε‐sarcoglycan mutations found in combination with other dystonia gene mutationsAnnals of Neurology, 2002
- Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndromeNature Genetics, 2001
- Validity and reliability of a rating scale for the primary torsion dystoniasNeurology, 1985
- Myoclonic dystoniaNeurology, 1983