Homozygous PTRHD1 Mutation in Intellectual Disability and Atypical Parkinsonism.

Abstract excerpt

Five different homozygous PTRHD1 mutations, two of them in more than one family, have been reported as responsible for intellectual disability (ID) and parkinsonism. In all 10 families, onset of ID was early childhood, and in parkinsonism, later childhood to the fourth decade. We report on a family with four siblings presenting with mild to moderate ID and mildly ataxic gait without spasticity or hemiparesis that...

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