MovDisordV3, Main, Merge, bibRecord, 002812

ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

Identifieur interne : 002812 ( Main/Merge ); précédent : 002811; suivant : 002813

ATP13A2 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.

RBID : Pascal:10-0315043

Descripteurs français

Pascal (Inist)
- Dystonie, Parkinsonisme, Pathologie du système nerveux, Mutation, Encéphale, Fer.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Dystonia, Encephalon, Iron, Mutation, Nervous system diseases, Parkinsonism.

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.

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation</title>
<author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square</s1>
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<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
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<author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square</s1>
<s2>London</s2>
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<series><title level="j" type="main">Movement disorders</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
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<term>Nervous system diseases</term>
<term>Parkinsonism</term>
</keywords>
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<term>Pathologie du   système nerveux</term>
<term>Mutation</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.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
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<settlement><li>Londres</li>
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<orgName><li>National Hospital for Neurology and Neurosurgery</li>
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<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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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>
<name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
<name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
<name sortKey="Paisan Ruiz, Coro" sort="Paisan Ruiz, Coro" uniqKey="Paisan Ruiz C" first="Coro" last="Paisan-Ruiz">Coro Paisan-Ruiz</name>
<name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name>
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<country name="Allemagne"><noRegion><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

ATP13A2 Mutations (PARK9) Cause Neurodegeneration with Brain Iron Accumulation

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Descripteurs français

English descriptors

Abstract

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Links to Exploration step

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Pour manipuler ce document sous Unix (Dilib)

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