ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Identifieur interne : 001E75 ( Main/Exploration ); précédent : 001E74; suivant : 001E76ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation
Auteurs : Susanne A. Schneider [Royaume-Uni, Allemagne] ; Coro Paisan-Ruiz [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-06-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Fer.
English descriptors
- KwdEn :
- ATP13A2, Adult, Brain (metabolism), Dystonia, Encephalon, Humans, Iron, Iron (metabolism), Kufor Rakeb, Magnetic Resonance Imaging (methods), Male, Mutation, Mutation (genetics), NBIA, Nerve Degeneration (etiology), Nerve Degeneration (genetics), Nerve Degeneration (pathology), Nervous system diseases, PARK9, Parkinson genetics, Parkinsonism, Proton-Translocating ATPases (genetics), brain iron, dystonia parkinsonism, iron deposition, neurodegeneration with brain iron accumulation.
- MESH :
- chemical , genetics : Proton-Translocating ATPases.
- chemical , metabolism : Iron.
- etiology : Nerve Degeneration.
- genetics : Mutation, Nerve Degeneration.
- metabolism : Brain.
- methods : Magnetic Resonance Imaging.
- pathology : Nerve Degeneration.
- Adult, Humans, Male.
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
Url:
DOI: 10.1002/mds.22947
Affiliations:
- Allemagne, Royaume-Uni
- Angleterre, Grand Londres
- Londres
- National Hospital for Neurology and Neurosurgery
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2</term>
<term>Adult</term>
<term>Brain (metabolism)</term>
<term>Dystonia</term>
<term>Encephalon</term>
<term>Humans</term>
<term>Iron</term>
<term>Iron (metabolism)</term>
<term>Kufor Rakeb</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>NBIA</term>
<term>Nerve Degeneration (etiology)</term>
<term>Nerve Degeneration (genetics)</term>
<term>Nerve Degeneration (pathology)</term>
<term>Nervous system diseases</term>
<term>PARK9</term>
<term>Parkinson genetics</term>
<term>Parkinsonism</term>
<term>Proton-Translocating ATPases (genetics)</term>
<term>brain iron</term>
<term>dystonia parkinsonism</term>
<term>iron deposition</term>
<term>neurodegeneration with brain iron accumulation</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton-Translocating ATPases</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Iron</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Nerve Degeneration</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
<term>Nerve Degeneration</term>
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<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Humans</term>
<term>Male</term>
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<term>Encéphale</term>
<term>Fer</term>
<term>Mutation</term>
<term>Parkinsonisme</term>
<term>Pathologie du système nerveux</term>
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<front><div type="abstract" xml:lang="en">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</div>
</front>
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<name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
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