ATP13A2 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

ATP13A2 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

Research output: Contribution to journal › Article › peer-review

161 Scopus citations

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.

Original language	English
Pages (from-to)	979-984
Number of pages	6
Journal	Movement Disorders
Volume	25
Issue number	8
DOIs	https://doi.org/10.1002/mds.22947
State	Published - 15 Jun 2010
Externally published	Yes

Keywords

ATP13A2
Brain iron
Dystonia parkinsonism
Iron deposition
Kufor Rakeb
NBIA
Neurodegeneration with brain iron accumulation
PARK9
Parkinson genetics

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title = "ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation",

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.",

keywords = "ATP13A2, Brain iron, Dystonia parkinsonism, Iron deposition, Kufor Rakeb, NBIA, Neurodegeneration with brain iron accumulation, PARK9, Parkinson genetics",

author = "Schneider, {Susanne A.} and Coro Paisan-Ruiz and Quinn, {Niall P.} and Lees, {Andrew J.} and Henry Houlden and John Hardy and Bhatia, {Kailash P.}",

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AU - Schneider, Susanne A.

AU - Paisan-Ruiz, Coro

AU - Quinn, Niall P.

AU - Lees, Andrew J.

AU - Houlden, Henry

AU - Hardy, John

AU - Bhatia, Kailash P.

PY - 2010/6/15

Y1 - 2010/6/15

N2 - 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.

AB - 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.

KW - ATP13A2

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KW - Dystonia parkinsonism

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KW - Parkinson genetics

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

Abstract

Keywords

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