The first identified French family with dentatorubral-pallidoluysian atrophy.
Identifieur interne : 000358 ( Ncbi/Checkpoint ); 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
Affiliations:
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pubmed:11009212Le document en format XML
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<term>Genotype</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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<name sortKey="Sablonniere, B" sort="Sablonniere, B" uniqKey="Sablonniere B" first="B" last="Sablonnière">B. Sablonnière</name>
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<country name="France"><noRegion><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name>
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