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- W2040353139 abstract "Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (<i>PRNP</i>). 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 conformer with unusual sensitivity to protease digestion. Mutations in <i>PRNP</i> may cause neuropsychiatric disorders that predate dementia by many years." @default.
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- W2040353139 date "2005-04-11" @default.
- W2040353139 modified "2023-09-25" @default.
- W2040353139 title "PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia" @default.
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- W2040353139 doi "https://doi.org/10.1212/01.wnl.0000156911.70131.06" @default.
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