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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

✍ Scribed by Susanne A. Schneider; Coro Paisan-Ruiz; Niall P. Quinn; Andrew J. Lees; Henry Houlden; John Hardy; Kailash P. Bhatia

Book ID
102502322
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
105 KB
Volume
25
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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 revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. Our findings add KRD to the group of syndromes of neurodegeneration with brain iron accumulation (NBIA). KRD should be considered in patients with dystonia‐parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3. © 2010 Movement Disorder Society

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