Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Identifieur interne : 003A35 ( Main/Exploration ); précédent : 003A34; suivant : 003A36Adult‐onset generalized dystonia due to a mutation in the neuroferritinopathy gene
Auteurs : Pablo Mir [Royaume-Uni, Espagne] ; Mark J. Edwards [Royaume-Uni] ; Andrew R. J. Curtis [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-02.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Basal Ganglia (pathology), Chromosome Disorders (genetics), DNA Mutational Analysis (methods), Dystonia, Dystonic Disorders (blood), Dystonic Disorders (genetics), Dystonic Disorders (pathology), Ferritins (genetics), Humans, Magnetic Resonance Imaging (methods), Male, Motor control, Mutation, Nervous system diseases, Protein Subunits (genetics), ferritin, neuroferritinopathy, secondary dystonia.
- MESH :
- chemical , genetics : Ferritins, Protein Subunits.
- blood : Dystonic Disorders.
- genetics : Chromosome Disorders, Dystonic Disorders.
- methods : DNA Mutational Analysis, Magnetic Resonance Imaging.
- pathology : Basal Ganglia, Dystonic Disorders.
- Adult, Humans, Male, Mutation.
Abstract
Neuroferritinopathy is a recently recognized autosomal dominant disorder that results in abnormal aggregates of iron and ferritin in the brain due to a mutation in the ferritin light chain gene on chromosome 19q13.3. We present the clinical details of a patient with adult‐onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20280
Affiliations:
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Le document en format XML
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Edwards</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Curtis, Andrew R J" sort="Curtis, Andrew R J" uniqKey="Curtis A" first="Andrew R. J." last="Curtis">Andrew R. J. Curtis</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Human Genetics, The International Centre for Life, Central Parkway, Newcastle‐upon‐Tyne</wicri:regionArea><wicri:noRegion>Newcastle‐upon‐Tyne</wicri:noRegion></affiliation></author><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"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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We present the clinical details of a patient with adult‐onset generalized dystonia associated with this mutation. Neuroferritinopathy appears to be a rare disorder; hence, there is a need to report new cases to further our understanding of the clinical phenotype, diagnostic challenges, the course of the condition and imaging characteristics. © 2004 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Curtis, Andrew R J" sort="Curtis, Andrew R J" uniqKey="Curtis A" first="Andrew R. J." last="Curtis">Andrew R. J. Curtis</name><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name></country><country name="Espagne"><noRegion><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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