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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Author(s) -
Schneider Susanne A.,
PaisanRuiz Coro,
Quinn Niall P.,
Lees Andrew J.,
Houlden Henry,
Hardy John,
Bhatia Kailash P.
Publication year - 2010
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22947
Subject(s) - parkinsonism , dystonia , neurodegeneration , atrophy , movement disorders , neuroscience , medicine , pathology , psychology , disease
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