Article
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2010
Schneider Susanne A, Paisan-Ruiz Coro, Quinn Niall P, Lees Andrew J, Houlden Henry, Hardy John, Bhatia Kailash P
Abstract excerpt
Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal-pyramidal syndrome with generalized brain atrophy due to ATP13A2 gene mutations. We report clinical details and investigational results focusing on radiological findings of a genetically-proven KRD case. Clinically, there was early onset levodopa-responsive dystonia-parkinsonism with pyramidal signs and eye movement abnormalities. Brain MRI...
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