Clinical and genetic characterization of a large Dutch family with primary focal dystonia
Identifieur interne : 002942 ( Main/Exploration ); précédent : 002941; suivant : 002943Clinical and genetic characterization of a large Dutch family with primary focal dystonia
Auteurs : Maria Fiorella Contarino [Pays-Bas] ; Elles Berger-Plantinga [Pays-Bas] ; Elisabeth M. J. Foncke [Pays-Bas] ; Katja Ritz [Pays-Bas] ; Jonke Mellema [Pays-Bas] ; Frank Baas [Pays-Bas] ; Johannes D. Speelman [Pays-Bas] ; Marina A. J. Tijssen [Pays-Bas]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
Descripteurs français
- Wicri :
- geographic : Pays-Bas.
English descriptors
- KwdEn :
- Adult, Aged, Child, DNA Mutational Analysis, Dystonic Disorders (diagnosis), Dystonic Disorders (genetics), Dystonic Disorders (physiopathology), Family Health, Female, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Netherlands (epidemiology), Polymorphism, Single Nucleotide, Sarcoglycans (genetics), Severity of Illness Index, family, focal dystonia, genetic, geographical isolate.
- MESH :
- chemical , genetics : Molecular Chaperones, Sarcoglycans.
- geographic , epidemiology : Netherlands.
- diagnosis : Dystonic Disorders.
- genetics : Dystonic Disorders.
- physiopathology : Dystonic Disorders.
- Adult, Aged, Child, DNA Mutational Analysis, Family Health, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Severity of Illness Index.
Abstract
We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22206
Affiliations:
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Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Pays-Bas</li></country><region><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li></settlement></list><tree><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name></region><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><name sortKey="Berger Lantinga, Elles" sort="Berger Lantinga, Elles" uniqKey="Berger Lantinga E" first="Elles" last="Berger-Plantinga">Elles Berger-Plantinga</name><name sortKey="Foncke, Elisabeth M J" sort="Foncke, Elisabeth M J" uniqKey="Foncke E" first="Elisabeth M. J." last="Foncke">Elisabeth M. J. Foncke</name><name sortKey="Mellema, Jonke" sort="Mellema, Jonke" uniqKey="Mellema J" first="Jonke" last="Mellema">Jonke Mellema</name><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Speelman, Johannes D" sort="Speelman, Johannes D" uniqKey="Speelman J" first="Johannes D." last="Speelman">Johannes D. Speelman</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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