<i>ATP13A2</i> mutations (PARK9) cause neurodegeneration with brain iron accumulation

Susanne A. Schneider, Coro Paisan‐Ruiz, Niall P. Quinn, Andrew J. Lees, Henry Houlden, John Hardy, Kailash P. Bhatia

doi:10.1002/mds.22947

<i>ATP13A2</i> mutations (PARK9) cause neurodegeneration with brain iron accumulation

DOI Web Site Web Site 被引用文献1件

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公開日: 2010-06-09

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http://onlinelibrary.wiley.com/termsAndConditions#vor

DOI

10.1002/mds.22947

公開者: Wiley

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<jats:title>Abstract</jats:title><jats:p>Kufor Rakeb disease (KRD, PARK9) is an autosomal recessive extrapyramidal‐pyramidal syndrome with generalized brain atrophy due to <jats:italic>ATP13A2</jats:italic> 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</jats:p>