Late‐onset presentation of pyruvate dehydrogenase deficiency | Zendy

Mellick George | Zendy; Price Lee | Zendy; Boyle Richard | Zendy

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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

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