The first identified French family with dentatorubral-pallidoluysian atrophy

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 his tory of DRPLA and their father presented at age 66 with pes cavus but witho ut 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 th e variable clinical presentation of this disease with incomplete penetrance in the father and demonstrates that DRPLA can be observed in the French Ca ucasian population.