[Female with dentatorubral-pallidoluysian atrophy followed for 14 years from the pre-clinical stage: availability of gait analysis].

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We presented a 28 -year -old female with dentatorubral-pallidoluysian atrophy (DRPLA ) who had been followed from the pre-clinical stage . Her mother and elder brother were diagnosed as DRPLA at autopsy . Though the genetic diagnosis was not performed , we diagnosed this patient as DRPLA from her clinical course and family history . She first visited our hospital at age 14 with a symptoms of mental retardation . Generalized tonic-clonic type epilepsy developed at age 15 , and valproate was prescribed from age 24 . Gait disturbance and mental deterioration gradually progressed from age 15 . We had performed gait analyses and brain MRI studies at regular intervals from age 14 to 27 . She could walk even with gait disturbance until her early 20 s . At one year after marked ataxia was recorded on gait analysis , she rapidly regressed and became unable to walk . Following this patient over a long period of time presented an opportunity to gather informative data regarding the progression of this disorder .