Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review
✍ Scribed by Kathryn J. Peall; Adrian J. Waite; Derek J. Blake; Mike J. Owen; Huw R. Morris
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 678 KB
- Volume
- 26
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
✦ Synopsis
Abstract
Background:
Mutations in the maternally imprinted epsilon‐sarcoglycan gene occur in 30%–50% of myoclonus‐dystonia cases. Psychiatric symptoms, particularly obsessive‐compulsive disorder, have been described in some patients.
Methods:
We systematically reviewed 22 reports of psychiatric symptoms in myoclonus‐dystonia, dividing individuals according to clinical and mutation status.
Results:
Clinically manifesting mutation carriers demonstrated an excess of psychiatric disorders compared with nonmutation carriers (P < .001). No differences were seen between non‐motor‐manifesting carriers and nonmutation carriers with the exception of alcohol excess/dependence, higher in non‐motor‐manifesting carriers.
Conclusions:
The results confirm the association of epsilon‐sarcoglycan gene mutations with psychiatric disease and suggest a possible separation of the motor and psychiatric effects. © 2011 Movement Disorder Society
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## Abstract In a Chinese myoclonus‐dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the ε‐sarcoglycan (__SGCE__) gene, leading to a frameshift wi