Late-onset presentation of pyruvate dehydrogenase deficiency.
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.
Mellick
George
G
Department of Neurology, Princess Alexandra Hospital, Brisbane, Australia.
Price
Lee
L
Boyle
Richard
R
D000367:Age Factors; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000175:diagnosis / Q000209:etiology*; D016133:Polymerase Chain Reaction; D011699:Putamen / Q000000981:diagnostic imaging / Q000473:pathology; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000150:complications* / Q000235:genetics; D014057:Tomography, X-Ray Computed