MovDisordV3, Main, Exploration, bibRecord, 003979

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

Identifieur interne : 003979 ( Main/Exploration ); précédent : 003978; suivant : 003980

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

Auteurs : Claire-Marie Dhaenens [France] ; Pierre Krystkowiak [France] ; Xavier Douay [France] ; Pierre Charpentier [France] ; Sylvain Bele [France] ; Alain Destée [France] ; Bernard Sablonnière [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2005-07.

RBID : ISTEX:C10E0A01288A2FAB35CEC1AF835E40FFD6FBD423

Descripteurs français

Pascal (Inist)
- Dystonie, Evaluation, Français, Système nerveux pathologie.
Wicri :
- geographic : France.

English descriptors

KwdEn :
- Adult, Age Factors, Age of Onset, Aged, Blepharospasm (genetics), Carrier Proteins (genetics), Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Dystonia, Dystonic Disorders (classification), Dystonic Disorders (epidemiology), Dystonic Disorders (genetics), Evaluation, Female, France (epidemiology), French, Humans, Linkage Disequilibrium, Male, Middle Aged, Nervous system diseases, Retrospective Studies, Trinucleotide Repeats.
MESH :
- chemical , genetics : Carrier Proteins.
- geographic , epidemiology : France.
- classification : Dystonic Disorders.
- epidemiology : Dystonic Disorders.
- genetics : Blepharospasm, Dystonic Disorders.
- Adult, Age Factors, Age of Onset, Aged, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Female, Humans, Linkage Disequilibrium, Male, Middle Aged, Retrospective Studies, Trinucleotide Repeats.

Abstract

Primary focal dystonia (PFD) is known to be a clinically and genetically heterogeneous group of movement disorders. To evaluate the frequency of familial focal dystonia in a French population presenting with PFD, we screened 197 patients (150 index cases and 47 affected family members) presenting focal primary dystonia for the GAG deletion in the DYT1 gene and analyzed linkage to the DYT6, DYT7, and DYT13 loci in those who presented a family history. Fourteen families could be recruited and, among them 47 new symptomatic individuals could be identified by clinical examination. A group of 104 patients were without family history and 46 patients (30.7%) were found to have at least one first‐degree relative with dystonia. Mean age at onset was significantly later (55.4 ± 14.0 years) in the blepharospasm group and earlier in patients with writer's cramp (35.8 ± 14.0 years). The group of patients with family history showed a mean age at onset significantly earlier (39.2 ± 18.0) than in patients without family history (47.4 ± 14.4 years). Fourteen families demonstrated an autosomal mode of transmission and five families were studied further for genetic linkage analysis, but no significant linkage to one of the three loci could be observed. Our results illustrate the importance of genetic factors and the clinical heterogeneity of PFD. They indicate the existence of one or several as yet unmapped genes responsible for these diseases. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/C10E0A01288A2FAB35CEC1AF835E40FFD6FBD423/fulltext/pdf

DOI: 10.1002/mds.20398

Affiliations:

Le document en format XML

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<term>Blepharospasm (genetics)</term>
<term>Carrier Proteins (genetics)</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 9</term>
<term>DNA Mutational Analysis</term>
<term>Dystonia</term>
<term>Dystonic Disorders (classification)</term>
<term>Dystonic Disorders (epidemiology)</term>
<term>Dystonic Disorders (genetics)</term>
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<term>Humans</term>
<term>Linkage Disequilibrium</term>
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<term>Middle Aged</term>
<term>Nervous system diseases</term>
<term>Retrospective Studies</term>
<term>Trinucleotide Repeats</term>
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<term>Age Factors</term>
<term>Age of Onset</term>
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<front><div type="abstract" xml:lang="en">Primary focal dystonia (PFD) is known to be a clinically and genetically heterogeneous group of movement disorders. To evaluate the frequency of familial focal dystonia in a French population presenting with PFD, we screened 197 patients (150 index cases and 47 affected family members) presenting focal primary dystonia for the GAG deletion in the DYT1 gene and analyzed linkage to the DYT6, DYT7, and DYT13 loci in those who presented a family history. Fourteen families could be recruited and, among them 47 new symptomatic individuals could be identified by clinical examination. A group of 104 patients were without family history and 46 patients (30.7%) were found to have at least one first‐degree relative with dystonia. Mean age at onset was significantly later (55.4 ± 14.0 years) in the blepharospasm group and earlier in patients with writer's cramp (35.8 ± 14.0 years). The group of patients with family history showed a mean age at onset significantly earlier (39.2 ± 18.0) than in patients without family history (47.4 ± 14.4 years). Fourteen families demonstrated an autosomal mode of transmission and five families were studied further for genetic linkage analysis, but no significant linkage to one of the three loci could be observed. Our results illustrate the importance of genetic factors and the clinical heterogeneity of PFD. They indicate the existence of one or several as yet unmapped genes responsible for these diseases. © 2005 Movement Disorder Society</div>
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Movement Disorders (revue)

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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