The first identified French family with dentatorubral‐pallidoluysian atrophy
Identifieur interne : 003144 ( Istex/Checkpoint ); précédent : 003143; suivant : 003145The first identified French family with dentatorubral‐pallidoluysian atrophy
Auteurs : Alain Destée [France] ; Isabelle Delalande [France] ; Isabelle Vuillaume [France] ; Susanna Schraen-Maschke [France] ; Luc Defebvre [France] ; Bernard Sablonnière [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2000-09.
English descriptors
Abstract
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.
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DOI: 10.1002/1531-8257(200009)15:5<996::AID-MDS1036>3.0.CO;2-9
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<front><div type="abstract" xml:lang="en">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.</div>
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