MovDisordV3, Main, Curation, bibRecord, 003727

Spectrum of movement disorders in neuroferritinopathy

Identifieur interne : 003727 ( Main/Curation ); précédent : 003726; suivant : 003728

Spectrum of movement disorders in neuroferritinopathy

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

Source :

Movement Disorders [ 0885-3185 ] ; 2005-01.

RBID : ISTEX:D184EA5E35E557DDA15D68EFB24DD4370FAB65F5

Descripteurs français

Pascal (Inist)
- Chaîne peptidique légère, Chorée syndrome, Contrôle moteur, Dystonie, Ferritine, Système nerveux pathologie.

English descriptors

KwdEn :
- Chorea, Dystonia, Ferritin, Ferritins (genetics), Humans, Light peptide chain, Magnetic Resonance Imaging (methods), Male, Middle Aged, Motor control, Movement Disorders (genetics), Movement Disorders (pathology), Movement Disorders (physiopathology), Mutation, Neostriatum (pathology), Nervous system diseases, Videotape Recording (methods), chorea, dystonia, ferritin, ferritin light chain, movement disorder, neuroferritinopathy.
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. © 2004 Movement Disorder Society

Url:

https://api.istex.fr/document/D184EA5E35E557DDA15D68EFB24DD4370FAB65F5/fulltext/pdf

DOI: 10.1002/mds.20284

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ISTEX:D184EA5E35E557DDA15D68EFB24DD4370FAB65F5

Le document en format XML

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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>
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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. © 2004 Movement Disorder Society</div>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Spectrum of movement disorders in neuroferritinopathy

Spectrum of movement disorders in neuroferritinopathy

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