Clinical Manifestations of Autosomal Recessive Early-Onset Parkinsonism with Diurnal Fluctuation
Early-onset parkinsonism includes a group of heterogeneous disorders with an onset early in life, which share clinical features with Parkinson’s disease. Among these is autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF). In 1973 we7 reported AR-EPDF, struck by the marked diurnal fluctuation of symptoms in a group of patients with early-onset parkinsonism. The disease begins in the second or third decade of age, mostly with familial trait, and presents with dystonias and marked response to antiparkinsonism drugs. Subsequent authors4, 6 have reported similar cases. Diurnal fluctuation, unrelated to drug-induced motor fluctuations, is symptomatic worsening within a few hours of waking and improvement after sleep (sleep benefit). The idea this phenomenon being characteristic of AR-EPDF lead us to compare clinical features of early-onset parkinsonism patients with and without diurnal fluctuation.
KeywordsDiurnal Fluctuation Mental Symptom Sleep Benefit Familial Trait Truncal Dystonia
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