MovDisordV3, PubMed, Checkpoint, bibRecord, 003E58

The first identified French family with dentatorubral-pallidoluysian atrophy.

Identifieur interne : 003E58 ( PubMed/Checkpoint ); précédent : 003E57; suivant : 003E59

The first identified French family with dentatorubral-pallidoluysian atrophy.

Auteurs : A. Destée [France] ; I. Delalande ; I. Vuillaume ; S. Schraen-Maschke ; L. Defebvre ; B. Sablonnière

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.

RBID : pubmed:11009212

Descripteurs français

Wicri :
- geographic : France.

English descriptors

KwdEn :
- Adult, Aged, DNA Mutational Analysis, Dementia (genetics), Diagnosis, Differential, Female, France, Genotype, Humans, Huntington Disease (genetics), Male, Movement Disorders (genetics), Mutation, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (ethnology), Myoclonic Epilepsies, Progressive (genetics), Pedigree, Phenotype, Trinucleotide Repeat Expansion (genetics).
MESH :
- geographic : France.
- complications : Myoclonic Epilepsies, Progressive.
- diagnosis : Myoclonic Epilepsies, Progressive.
- ethnology : Myoclonic Epilepsies, Progressive.
- genetics : Dementia, Huntington Disease, Movement Disorders, Myoclonic Epilepsies, Progressive, Trinucleotide Repeat Expansion.
- Adult, Aged, DNA Mutational Analysis, Diagnosis, Differential, Female, Genotype, Humans, Male, Mutation, Pedigree, Phenotype.

Abstract

We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.

PubMed: 11009212

Affiliations:

France
Lille

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pubmed:11009212

Le document en format XML

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<author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro, Lille, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro, Lille</wicri:regionArea>
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<author><name sortKey="Schraen Maschke, S" sort="Schraen Maschke, S" uniqKey="Schraen Maschke S" first="S" last="Schraen-Maschke">S. Schraen-Maschke</name>
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<author><name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name>
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<term>Female</term>
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<term>Humans</term>
<term>Huntington Disease (genetics)</term>
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<term>Mutation</term>
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<term>Genotype</term>
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<term>Male</term>
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<front><div type="abstract" xml:lang="en">We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>The first identified French family with dentatorubral-pallidoluysian atrophy.</ArticleTitle>
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<Abstract><AbstractText>We report the first French family with dentatorubral-pallidoluysian atrophy (DRPLA) in which three members, a 36-year-old woman (proband), her 34-year-old sister, and 14-year-old brother were affected. There was no family history of DRPLA and their father presented at age 66 with pes cavus but without any other neurologic symptoms. Molecular analysis of the DRPLA gene from blood leukocytes showed CAG repeat sizes to be 68/16 in the proband, 62/15 in her father, and 16/16 in her mother. This study provides support for the variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Caucasian population.</AbstractText>
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<name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name>
<name sortKey="Schraen Maschke, S" sort="Schraen Maschke, S" uniqKey="Schraen Maschke S" first="S" last="Schraen-Maschke">S. Schraen-Maschke</name>
<name sortKey="Vuillaume, I" sort="Vuillaume, I" uniqKey="Vuillaume I" first="I" last="Vuillaume">I. Vuillaume</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The first identified French family with dentatorubral-pallidoluysian atrophy.

The first identified French family with dentatorubral-pallidoluysian atrophy.

Source :

Descripteurs français

English descriptors

Abstract

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

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki