title: The first identified French family with dentatorubral-pallidoluysian atrophy.
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.
authors.affiliation: Service de Neurologie et Pathologie du Mouvement, Clinique Neurologique, Hôpital R. Salengro, Lille, France.
authors.forename: A
authors.initials: A
authors.lastname: Destée
authors.forename: I
authors.initials: I
authors.lastname: Delalande
authors.forename: I
authors.initials: I
authors.lastname: Vuillaume
authors.forename: S
authors.initials: S
authors.lastname: Schraen-Maschke
authors.forename: L
authors.initials: L
authors.lastname: Defebvre
authors.forename: B
authors.initials: B
authors.lastname: Sablonnière
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005602:France; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D008297:Male; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*