MovDisordV3, France, Analysis, bibRecord, 000521

The first identified French family with dentatorubral‐pallidoluysian atrophy

Identifieur interne : 000521 ( France/Analysis ); précédent : 000520; suivant : 000522

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

Affiliations:

Links to Exploration step

ISTEX:5E114D2AD5C807396C70546C187589E78A0C561D

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">The first identified French family with dentatorubral‐pallidoluysian atrophy</title>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<affiliation><country>France</country>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Delalande, Isabelle" sort="Delalande, Isabelle" uniqKey="Delalande I" first="Isabelle" last="Delalande">Isabelle Delalande</name>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
</author>
<author><name sortKey="Schraen Aschke, Susanna" sort="Schraen Aschke, Susanna" uniqKey="Schraen Aschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
</author>
<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation><country>France</country>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:5E114D2AD5C807396C70546C187589E78A0C561D</idno>
<date when="2000" year="2000">2000</date>
<idno type="doi">10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9</idno>
<idno type="url">https://api.istex.fr/document/5E114D2AD5C807396C70546C187589E78A0C561D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003310</idno>
<idno type="wicri:Area/Istex/Curation">003310</idno>
<idno type="wicri:Area/Istex/Checkpoint">003144</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Destee A:the:first:identified</idno>
<idno type="wicri:Area/Main/Merge">007241</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:00-0478887</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">002B71</idno>
<idno type="wicri:Area/PascalFrancis/Curation">000150</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">002B02</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Destee A:the:first:identified</idno>
<idno type="wicri:Area/Main/Merge">007494</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:11009212</idno>
<idno type="wicri:Area/PubMed/Corpus">003E93</idno>
<idno type="wicri:Area/PubMed/Curation">003E93</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003E58</idno>
<idno type="wicri:Area/Ncbi/Merge">000358</idno>
<idno type="wicri:Area/Ncbi/Curation">000358</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000358</idno>
<idno type="wicri:doubleKey">0885-3185:2000:Destee A:the:first:identified</idno>
<idno type="wicri:Area/Main/Merge">007001</idno>
<idno type="wicri:Area/Main/Curation">004944</idno>
<idno type="wicri:Area/Main/Exploration">004944</idno>
<idno type="wicri:Area/France/Extraction">000521</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">The first identified French family with dentatorubral‐pallidoluysian atrophy</title>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Delalande, Isabelle" sort="Delalande, Isabelle" uniqKey="Delalande I" first="Isabelle" last="Delalande">Isabelle Delalande</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schraen Aschke, Susanna" sort="Schraen Aschke, Susanna" uniqKey="Schraen Aschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique and UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
<placeName><settlement type="city">Lille</settlement>
<region type="region" nuts="2">Nord-Pas-de-Calais</region>
</placeName>
<orgName type="university" n="3">Université Lille 2</orgName>
<orgName type="institution" wicri:auto="newGroup">Université Lille Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name>
<affiliation wicri:level="1"><country xml:lang="fr">France</country>
<wicri:regionArea>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro, Lille</wicri:regionArea>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Movement Disorders</title>
<title level="j" type="abbrev">Mov. Disord.</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><publisher>John Wiley & Sons, Inc.</publisher>
<pubPlace>New York</pubPlace>
<date type="published" when="2000-09">2000-09</date>
<biblScope unit="vol">15</biblScope>
<biblScope unit="issue">5</biblScope>
<biblScope unit="page" from="996">996</biblScope>
<biblScope unit="page" to="999">999</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">5E114D2AD5C807396C70546C187589E78A0C561D</idno>
<idno type="DOI">10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9</idno>
<idno type="ArticleID">MDS1036</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>CAG repeat</term>
<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>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>France</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Myoclonic Epilepsies, Progressive</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term>
<term>Huntington Disease</term>
<term>Movement Disorders</term>
<term>Myoclonic Epilepsies, Progressive</term>
<term>Trinucleotide Repeat Expansion</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<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>
</keywords>
<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>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>France</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Nord-Pas-de-Calais</li>
</region>
<settlement><li>Lille</li>
</settlement>
<orgName><li>Université Lille 2</li>
<li>Université Lille Nord de France</li>
</orgName>
</list>
<tree><country name="France"><noRegion><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name>
</noRegion>
<name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<name sortKey="Delalande, Isabelle" sort="Delalande, Isabelle" uniqKey="Delalande I" first="Isabelle" last="Delalande">Isabelle Delalande</name>
<name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name>
<name sortKey="Schraen Aschke, Susanna" sort="Schraen Aschke, Susanna" uniqKey="Schraen Aschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
<name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000521 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000521 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     ISTEX:5E114D2AD5C807396C70546C187589E78A0C561D
   |texte=   The first identified French family with dentatorubral‐pallidoluysian atrophy
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

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

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.