MovDisordV3, Ncbi, Curation, bibRecord, 001059

Spectrum of movement disorders in neuroferritinopathy.

Identifieur interne : 001059 ( Ncbi/Curation ); précédent : 001058; suivant : 001060

Spectrum of movement disorders in neuroferritinopathy.

Auteurs : Douglas E. Crompton [Royaume-Uni] ; 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 toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003229
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003229
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002F59
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001059

Links to Exploration step

pubmed:15390132

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Spectrum of movement disorders in neuroferritinopathy.</title>
<author><name sortKey="Crompton, Douglas E" sort="Crompton, Douglas E" uniqKey="Crompton D" first="Douglas E" last="Crompton">Douglas E. Crompton</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</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>
</author>
<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>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2005">2005</date>
<idno type="RBID">pubmed:15390132</idno>
<idno type="pmid">15390132</idno>
<idno type="doi">10.1002/mds.20284</idno>
<idno type="wicri:Area/PubMed/Corpus">003229</idno>
<idno type="wicri:Area/PubMed/Curation">003229</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002F59</idno>
<idno type="wicri:Area/Ncbi/Merge">001059</idno>
<idno type="wicri:Area/Ncbi/Curation">001059</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Spectrum of movement disorders in neuroferritinopathy.</title>
<author><name sortKey="Crompton, Douglas E" sort="Crompton, Douglas E" uniqKey="Crompton D" first="Douglas E" last="Crompton">Douglas E. Crompton</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne, United Kingdom.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Neurology, Regional Neurosciences Centre, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</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>
</author>
<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>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2005" type="published">2005</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<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>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ferritins</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Movement Disorders</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term>
<term>Videotape Recording</term>
</keywords>
<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>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001059 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001059 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Ncbi
   |étape=   Curation
   |type=    RBID
   |clé=     pubmed:15390132
   |texte=   Spectrum of movement disorders in neuroferritinopathy.
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i   -Sk "pubmed:15390132" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a MovDisordV3

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	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 toward previous steps (curation, corpus...)

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