Spectrum of movement disorders in neuroferritinopathy
Identifieur interne : 003727 ( Main/Exploration ); précédent : 003726; suivant : 003728Spectrum 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.
Descripteurs français
- Pascal (Inist)
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:
DOI: 10.1002/mds.20284
Affiliations:
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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></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Crompton, Douglas E" sort="Crompton, Douglas E" uniqKey="Crompton D" first="Douglas E." last="Crompton">Douglas E. Crompton</name></noRegion><name sortKey="Bates, David" sort="Bates, David" uniqKey="Bates D" first="David" last="Bates">David Bates</name><name sortKey="Burn, John" sort="Burn, John" uniqKey="Burn J" first="John" last="Burn">John Burn</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name><name sortKey="Curtis, Andrew J" sort="Curtis, Andrew J" uniqKey="Curtis A" first="Andrew J." last="Curtis">Andrew J. Curtis</name><name sortKey="Jackson, Margaret J" sort="Jackson, Margaret J" uniqKey="Jackson M" first="Margaret J." last="Jackson">Margaret J. Jackson</name><name sortKey="Walls, Timothy J" sort="Walls, Timothy J" uniqKey="Walls T" first="Timothy J." last="Walls">Timothy J. Walls</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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