Late-onset presentation of pyruvate dehydrogenase deficiency
Author(s)
Mellick, G
Price, L
Boyle, R
Griffith University Author(s)
Year published
2004
Metadata
Show full item recordAbstract
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.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.
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Journal Title
Movement Disorders
Volume
19
Issue
6
Subject
Clinical sciences
Sports science and exercise
Neurosciences