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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