MovDisordV3, Main, Curation, bibRecord, 004944

The first identified French family with dentatorubral‐pallidoluysian atrophy

Identifieur interne : 004944 ( Main/Curation ); précédent : 004943; suivant : 004945

The first identified French family with dentatorubral‐pallidoluysian atrophy

Auteurs : Alain Destée [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonnière [France]

Source :

Movement Disorders [ 0885-3185 ] ; 2000-09.

RBID : ISTEX:5E114D2AD5C807396C70546C187589E78A0C561D

Descripteurs français

Pascal (Inist)
- Adulte, Atrophie dentatorubropallidoluysienne, Biologie moléculaire, Caucasoïde, Déterminisme génétique, Etude familiale, Femelle, Français, Mâle, Pénétrance génique.
Wicri :
- geographic : France.
- topic : Adulte.

English descriptors

KwdEn :
- Adult, Aged, CAG repeat, Caucasoid, DNA Mutational Analysis, Dementia (genetics), Dentatorubral, Dentatorubropallidoluysian atrophy, Diagnosis, Differential, Family study, Female, France, French, Gene penetrance, Genetic determinism, Genotype, Humans, Huntington Disease (genetics), Incomplete penetrance, Male, Molecular biology, Movement Disorders (genetics), Mutation, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (ethnology), Myoclonic Epilepsies, Progressive (genetics), Pallidoluysian atrophy, 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 dentatorubralpallidoluysian 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.

Url:

https://api.istex.fr/document/5E114D2AD5C807396C70546C187589E78A0C561D/fulltext/pdf

DOI: 10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9

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ISTEX:5E114D2AD5C807396C70546C187589E78A0C561D

Le document en format XML

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<term>Caucasoid</term>
<term>DNA Mutational Analysis</term>
<term>Dementia (genetics)</term>
<term>Dentatorubral</term>
<term>Dentatorubropallidoluysian atrophy</term>
<term>Diagnosis, Differential</term>
<term>Family study</term>
<term>Female</term>
<term>France</term>
<term>French</term>
<term>Gene penetrance</term>
<term>Genetic determinism</term>
<term>Genotype</term>
<term>Humans</term>
<term>Huntington Disease (genetics)</term>
<term>Incomplete penetrance</term>
<term>Male</term>
<term>Molecular biology</term>
<term>Movement Disorders (genetics)</term>
<term>Mutation</term>
<term>Myoclonic Epilepsies, Progressive (complications)</term>
<term>Myoclonic Epilepsies, Progressive (diagnosis)</term>
<term>Myoclonic Epilepsies, Progressive (ethnology)</term>
<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Pallidoluysian atrophy</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Trinucleotide Repeat Expansion (genetics)</term>
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<term>Movement Disorders</term>
<term>Myoclonic Epilepsies, Progressive</term>
<term>Trinucleotide Repeat Expansion</term>
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<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Diagnosis, Differential</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Phenotype</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Adulte</term>
<term>Atrophie dentatorubropallidoluysienne</term>
<term>Biologie moléculaire</term>
<term>Caucasoïde</term>
<term>Déterminisme génétique</term>
<term>Etude familiale</term>
<term>Femelle</term>
<term>Français</term>
<term>Mâle</term>
<term>Pénétrance génique</term>
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<front><div type="abstract" xml:lang="en">We report the first French family with dentatorubralpallidoluysian 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>
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<front><div type="abstract" xml:lang="en">We report the first French family with dentatorubralpallidoluysian 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>
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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>
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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

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