Neurological manifestations in Wilson's disease: Report of 119 cases
Identifieur interne : 003327 ( Main/Exploration ); précédent : 003326; suivant : 003328Neurological manifestations in Wilson's disease: Report of 119 cases
Auteurs : Alexandre Machado [Brésil] ; Hsin Fen Chien [Brésil] ; Marta Mitiko Deguti [Brésil] ; Eduardo Cançado [Brésil] ; Raymundo Soares Azevedo [Brésil] ; Milberto Scaff [Brésil] ; Egberto Reis Barbosa [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Cuivre.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Case study, Child, Copper, Female, Hepatolenticular Degeneration (diagnosis), Hepatolenticular Degeneration (physiopathology), Humans, Medical Records (statistics & numerical data), Nervous System Diseases (physiopathology), Nervous system diseases, Neurologic Examination, Retrospective Studies, Wilson disease, Wilson's disease, neurological manifestations.
- MESH :
- diagnosis : Hepatolenticular Degeneration.
- physiopathology : Hepatolenticular Degeneration, Nervous System Diseases.
- statistics & numerical data : Medical Records.
- Adolescent, Adult, Age of Onset, Child, Female, Humans, Neurologic Examination, Retrospective Studies.
Abstract
We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7–37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%). © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21170
Affiliations:
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Le document en format XML
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-12">2006-12</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2192">2192</biblScope><biblScope unit="page" to="2196">2196</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">D5510326E3372F83B9F844233921D6EA6F8F44CE</idno><idno type="DOI">10.1002/mds.21170</idno><idno type="ArticleID">MDS21170</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Case study</term><term>Child</term><term>Copper</term><term>Female</term><term>Hepatolenticular Degeneration (diagnosis)</term><term>Hepatolenticular Degeneration (physiopathology)</term><term>Humans</term><term>Medical Records (statistics & numerical data)</term><term>Nervous System Diseases (physiopathology)</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Retrospective Studies</term><term>Wilson disease</term><term>Wilson's disease</term><term>neurological manifestations</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hepatolenticular Degeneration</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Hepatolenticular Degeneration</term><term>Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Medical Records</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age of Onset</term><term>Child</term><term>Female</term><term>Humans</term><term>Neurologic Examination</term><term>Retrospective Studies</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Cuivre</term><term>Etude cas</term><term>Système nerveux pathologie</term><term>Wilson maladie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cuivre</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe the neurological manifestations of 119 patients with WD (93 index cases and 26 affected family members) seen between 1963 and 2004. The mean age at symptoms onset was 19.6 years (range, 7–37 years). Medical records were reviewed for the patient's first neurological examination. The most frequent neurological manifestations observed were dysarthria (91%), gait disturbance (75%), risus sardonicus (72%), dystonia (69%), rigidity (66%), tremor (60%), and dysphagia (50%). Less frequent manifestations were chorea (16%) and athetosis (14%). Rare neurological presentations were seizures (4.2%), and pyramidal signs (3%). © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Machado, Alexandre" sort="Machado, Alexandre" uniqKey="Machado A" first="Alexandre" last="Machado">Alexandre Machado</name></region><name sortKey="Cancado, Eduardo" sort="Cancado, Eduardo" uniqKey="Cancado E" first="Eduardo" last="Cançado">Eduardo Cançado</name><name sortKey="Fen Chien, Hsin" sort="Fen Chien, Hsin" uniqKey="Fen Chien H" first="Hsin" last="Fen Chien">Hsin Fen Chien</name><name sortKey="Mitiko Deguti, Marta" sort="Mitiko Deguti, Marta" uniqKey="Mitiko Deguti M" first="Marta" last="Mitiko Deguti">Marta Mitiko Deguti</name><name sortKey="Reis Barbosa, Egberto" sort="Reis Barbosa, Egberto" uniqKey="Reis Barbosa E" first="Egberto" last="Reis Barbosa">Egberto Reis Barbosa</name><name sortKey="Scaff, Milberto" sort="Scaff, Milberto" uniqKey="Scaff M" first="Milberto" last="Scaff">Milberto Scaff</name><name sortKey="Soares Azevedo, Raymundo" sort="Soares Azevedo, Raymundo" uniqKey="Soares Azevedo R" first="Raymundo" last="Soares Azevedo">Raymundo Soares Azevedo</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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