Article
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.
Neurology - 12 Apr 2005
Hall D A, Leehey M A, Filley C M, Steinbart E, Montine T, Schellenberg G D, Bosque P, Nixon R, Bird T
Abstract excerpt
Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (PRNP). Clinical features include neuropsychiatric disturbances in childhood and adolescence, dementia in young adulthood with frontotemporal manifestations, and long disease duration. Neuropathology revealed atrophy and mild gliosis, whereas prion protein analysis revealed an abnormal...
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