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Late‐onset presentation of pyruvate dehydrogenase deficiency
Author(s) -
Mellick George,
Price Lee,
Boyle Richard
Publication year - 2004
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.20063
Subject(s) - choreiform movement , parkinsonism , dysarthria , ataxia , movement disorders , medicine , pyruvate dehydrogenase complex , proband , rett syndrome , psychology , pediatrics , dyskinesia , psychiatry , biology , biochemistry , parkinson's disease , enzyme , disease , gene , mutation
Two brothers presented in their mid‐forties with movement disorders including atypical parkinsonism, choreiform movements, stereotypies, ataxia and dysarthria. Both brothers showed putaminal lucencies on imaging and, in the proband, a deficiency of the pyruvate dehydrogenase complex (PDHC) was found on skin fibroblast assay. © 2004 Movement Disorder Society