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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation |
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| Authors: | Susanne A Schneider MD PhD Coro Paisan‐Ruiz PhD Niall P Quinn MD FRCP Andrew J Lees MD FRCP Henry Houlden MD PhD John Hardy PhD Kailash P Bhatia MD FRCP |
| Institution: | 1. Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square;2. London, United Kingdom;3. Schilling Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Lübeck, Germany;4. Department of Molecular Neuroscience and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square |
| 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 |
| Keywords: | PARK9 ATP13A2 Kufor Rakeb dystonia parkinsonism brain iron NBIA iron deposition neurodegeneration with brain iron accumulation Parkinson genetics |