Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene | Zendy

Misbahuddin Anjum | Zendy; Placzek Mark | Zendy; Lennox Graham | Zendy; Taanman JanWillem | Zendy; Warner Thomas T. | Zendy

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Myoclonus–dystonia syndrome with severe depression is caused by an exon‐skipping mutation in the ε‐sarcoglycan gene

Author(s) -

Misbahuddin Anjum,

Placzek Mark,

Lennox Graham,

Taanman JanWillem,

Warner Thomas T.

Publication year - 2007

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21297

Subject(s) - myoclonus , dystonia , exon , depression (economics) , point mutation , medicine , mutation , exon skipping , psychiatry , genetics , psychology , gene , biology , alternative splicing , macroeconomics , economics

We describe two affected individuals in a family with myoclonus–dystonia syndrome complicated with severe depression. One individual committed suicide. Molecular genetic analysis revealed a heterozygous point mutation in the ε‐sarcoglycan gene, which we show leads to skipping of exon 5. This report suggests that the psychiatric spectrum of MDS includes more severe depression. © 2006 Movement Disorder Society

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