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The first identified French family with dentatorubral‐pallidoluysian atrophy
Author(s) -
Destée Alain,
Delalande Isabelle,
Vuillaume Isabelle,
SchraenMaschke Susanna,
Defebvre Luc,
Sablonnière Bernard
Publication year - 2000
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/1531-8257(200009)15:5<996::aid-mds1036>3.0.co;2-9
Subject(s) - proband , penetrance , pes cavus , family history , medicine , atrophy , population , natural history , pediatrics , genetics , biology , mutation , gene , complication , environmental health , phenotype
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.