MovDisordV3, Main, Merge, bibRecord, 007494

The first identified French family with dentatorubral-pallidoluysian atrophy

Identifieur interne : 007494 ( Main/Merge ); précédent : 007493; suivant : 007495

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 Sablonniere [France]

Source :

Movement disorders [ 0885-3185 ] ; 2000.

RBID : Pascal:00-0478887

Descripteurs français

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

English descriptors

KwdEn :
- Adult, Caucasoid, Dentatorubropallidoluysian atrophy, Family study, Female, French, Gene penetrance, Genetic determinism, Male, Molecular biology.

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.

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

to stream PascalFrancis, to step Corpus: 002B71
to stream PascalFrancis, to step Curation: 000150
to stream PascalFrancis, to step Checkpoint: 002B02

Links to Exploration step

Pascal:00-0478887

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">The first identified French family with dentatorubral-pallidoluysian atrophy</title>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schraen Maschke, Susanna" sort="Schraen Maschke, Susanna" uniqKey="Schraen Maschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Sablonniere">Bernard Sablonniere</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">00-0478887</idno>
<date when="2000">2000</date>
<idno type="stanalyst">PASCAL 00-0478887 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>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">The first identified French family with dentatorubral-pallidoluysian atrophy</title>
<author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destee">Alain Destée</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schraen Maschke, Susanna" sort="Schraen Maschke, Susanna" uniqKey="Schraen Maschke S" first="Susanna" last="Schraen-Maschke">Susanna Schraen-Maschke</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<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"><inist:fA14 i1="01"><s1>Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>France</country>
<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="Sablonniere">Bernard Sablonniere</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>UF de Neurobiologie, Laboratoire de Biochimie et Biologie Moléculaire, Hôpital R. Salengro</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><settlement type="city">Lille</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2000">2000</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Caucasoid</term>
<term>Dentatorubropallidoluysian atrophy</term>
<term>Family study</term>
<term>Female</term>
<term>French</term>
<term>Gene penetrance</term>
<term>Genetic determinism</term>
<term>Male</term>
<term>Molecular biology</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Atrophie dentatorubropallidoluysienne</term>
<term>Français</term>
<term>Caucasoïde</term>
<term>Pénétrance génique</term>
<term>Etude familiale</term>
<term>Déterminisme génétique</term>
<term>Biologie moléculaire</term>
<term>Adulte</term>
<term>Mâle</term>
<term>Femelle</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Adulte</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</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="Destee">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="Sablonniere">Bernard Sablonniere</name>
<name sortKey="Schraen Maschke, Susanna" sort="Schraen Maschke, Susanna" uniqKey="Schraen Maschke 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/Main/Merge

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 007494 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Merge/biblio.hfd -nk 007494 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Merge
   |type=    RBID
   |clé=     Pascal:00-0478887
   |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)
	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.

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