Familial Paroxysmal Exercise-Induced Dystonia: Atypical Presentation of Autosomal Dominant GTP-Cyclohydrolase 1 Deficiency.

摘要: Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother maternal grandfather) with autosomal dominant inheritance dystonia. The began childhood was only ever induced after many minutes exercise, never present at rest, on initiation movements. In addition, members suffered restless legs syndrome (RLS), depression, adult-onset Parkinsonism. case had low cerebrospinal fluid neurotransmitters pterins. PED RLS stopped l-Dopa therapy. Both live were found to have nonsense mutation (p.E84X) exon 1 GTP-cyclohydrolase (GCH-1) gene. propose that GCH-1 mutations should be considered genetic cause PED, especially if additional clinical features monoaminergic deficiency are affected individuals.