The first identified French family with dentatorubral-pallidoluysian atrophy.
Identifieur interne : 000358 ( Ncbi/Curation ); précédent : 000357; suivant : 000359The first identified French family with dentatorubral-pallidoluysian atrophy.
Auteurs : A. Destée [France] ; I. Delalande ; I. Vuillaume ; S. Schraen-Maschke ; L. Defebvre ; B. SablonnièreSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
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
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003E93
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003E93
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :003E58
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000358
Links to Exploration step
pubmed:11009212Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The first identified French family with dentatorubral-pallidoluysian atrophy.</title><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><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Delalande, I" sort="Delalande, I" uniqKey="Delalande I" first="I" last="Delalande">I. Delalande</name></author><author><name sortKey="Vuillaume, I" sort="Vuillaume, I" uniqKey="Vuillaume I" first="I" last="Vuillaume">I. Vuillaume</name></author><author><name sortKey="Schraen Maschke, S" sort="Schraen Maschke, S" uniqKey="Schraen Maschke S" first="S" last="Schraen-Maschke">S. Schraen-Maschke</name></author><author><name sortKey="Defebvre, L" sort="Defebvre, L" uniqKey="Defebvre L" first="L" last="Defebvre">L. Defebvre</name></author><author><name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2000">2000</date><idno type="RBID">pubmed:11009212</idno><idno type="pmid">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></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The first identified French family with dentatorubral-pallidoluysian atrophy.</title><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><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Delalande, I" sort="Delalande, I" uniqKey="Delalande I" first="I" last="Delalande">I. Delalande</name></author><author><name sortKey="Vuillaume, I" sort="Vuillaume, I" uniqKey="Vuillaume I" first="I" last="Vuillaume">I. Vuillaume</name></author><author><name sortKey="Schraen Maschke, S" sort="Schraen Maschke, S" uniqKey="Schraen Maschke S" first="S" last="Schraen-Maschke">S. Schraen-Maschke</name></author><author><name sortKey="Defebvre, L" sort="Defebvre, L" uniqKey="Defebvre L" first="L" last="Defebvre">L. Defebvre</name></author><author><name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2000" type="published">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Dementia (genetics)</term><term>Diagnosis, Differential</term><term>Female</term><term>France</term><term>Genotype</term><term>Humans</term><term>Huntington Disease (genetics)</term><term>Male</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>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="Wicri" type="geographic" xml:lang="fr"><term>France</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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000358 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 000358 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Ncbi
|étape= Curation
|type= RBID
|clé= pubmed:11009212
|texte= The first identified French family with dentatorubral-pallidoluysian atrophy.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:11009212" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |