Case Reports
doi: 10.1002/mds.22947.
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
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- PMID: 20310007
- DOI: 10.1002/mds.22947
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Case Reports
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Mov Disord.
.
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.
(c) 2010 Movement Disorder Society.
Comment in
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Response to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.Mov Disord. 2010 Oct 15;25(13):2253. doi: 10.1002/mds.23224. Mov Disord. 2010. PMID: 20740487 No abstract available.
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ATP13A2-related neurodegeneration (PARK9) without evidence of brain iron accumulation.Mov Disord. 2011 Jun;26(7):1364-5. doi: 10.1002/mds.23514. Epub 2011 Apr 5. Mov Disord. 2011. PMID: 21469196 No abstract available.
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