MovDisordV3, PubMed, Corpus, bibRecord, 003229

Spectrum of movement disorders in neuroferritinopathy.

Identifieur interne : 003229 ( PubMed/Corpus ); précédent : 003228; suivant : 003230

Spectrum of movement disorders in neuroferritinopathy.

Auteurs : Douglas E. Crompton ; Patrick F. Chinnery ; David Bates ; Timothy J. Walls ; Margaret J. Jackson ; Andrew J. Curtis ; John Burn

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.

RBID : pubmed:15390132

English descriptors

KwdEn :
- Ferritins (genetics), Humans, Magnetic Resonance Imaging (methods), Male, Middle Aged, Movement Disorders (genetics), Movement Disorders (pathology), Movement Disorders (physiopathology), Mutation, Neostriatum (pathology), Videotape Recording (methods).
MESH :
- chemical , genetics : Ferritins.
- genetics : Movement Disorders.
- methods : Magnetic Resonance Imaging, Videotape Recording.
- pathology : Movement Disorders, Neostriatum.
- physiopathology : Movement Disorders.
- Humans, Male, Middle Aged, Mutation.

Abstract

Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals.

DOI: 10.1002/mds.20284
PubMed: 15390132

Links to Exploration step

pubmed:15390132

Le document en format XML

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<author><name sortKey="Crompton, Douglas E" sort="Crompton, Douglas E" uniqKey="Crompton D" first="Douglas E" last="Crompton">Douglas E. Crompton</name>
<affiliation><nlm:affiliation>Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne, United Kingdom.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
</author>
<author><name sortKey="Bates, David" sort="Bates, David" uniqKey="Bates D" first="David" last="Bates">David Bates</name>
</author>
<author><name sortKey="Walls, Timothy J" sort="Walls, Timothy J" uniqKey="Walls T" first="Timothy J" last="Walls">Timothy J. Walls</name>
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<author><name sortKey="Jackson, Margaret J" sort="Jackson, Margaret J" uniqKey="Jackson M" first="Margaret J" last="Jackson">Margaret J. Jackson</name>
</author>
<author><name sortKey="Curtis, Andrew J" sort="Curtis, Andrew J" uniqKey="Curtis A" first="Andrew J" last="Curtis">Andrew J. Curtis</name>
</author>
<author><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name>
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<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
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<author><name sortKey="Bates, David" sort="Bates, David" uniqKey="Bates D" first="David" last="Bates">David Bates</name>
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<author><name sortKey="Walls, Timothy J" sort="Walls, Timothy J" uniqKey="Walls T" first="Timothy J" last="Walls">Timothy J. Walls</name>
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<author><name sortKey="Jackson, Margaret J" sort="Jackson, Margaret J" uniqKey="Jackson M" first="Margaret J" last="Jackson">Margaret J. Jackson</name>
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<author><name sortKey="Curtis, Andrew J" sort="Curtis, Andrew J" uniqKey="Curtis A" first="Andrew J" last="Curtis">Andrew J. Curtis</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ferritins (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Movement Disorders (genetics)</term>
<term>Movement Disorders (pathology)</term>
<term>Movement Disorders (physiopathology)</term>
<term>Mutation</term>
<term>Neostriatum (pathology)</term>
<term>Videotape Recording (methods)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ferritins</term>
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<term>Videotape Recording</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Movement Disorders</term>
<term>Neostriatum</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
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<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals.</div>
</front>
</TEI>
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<DateCreated><Year>2005</Year>
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<DateCompleted><Year>2005</Year>
<Month>05</Month>
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<DateRevised><Year>2006</Year>
<Month>11</Month>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Spectrum of movement disorders in neuroferritinopathy.</ArticleTitle>
<Pagination><MedlinePgn>95-9</MedlinePgn>
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<Abstract><AbstractText>Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging assists in identifying affected individuals.</AbstractText>
<CopyrightInformation>(c) 2004 Movement Disorder Society.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Crompton</LastName>
<ForeName>Douglas E</ForeName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D017072">Neostriatum</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D014743">Videotape Recording</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName>
</MeshHeading>
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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Spectrum of movement disorders in neuroferritinopathy.

Spectrum of movement disorders in neuroferritinopathy.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki