title: PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia.
abstract: 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 conformer with unusual sensitivity to protease digestion. Mutations in PRNP may cause neuropsychiatric disorders that predate dementia by many years.
authors.affiliation: Department of Neurology, University of Colorado Health Sciences Center, Denver, CO 80262, USA. deborah.hall@uchsc.edu
authors.forename: D A
authors.initials: DA
authors.lastname: Hall
authors.forename: M A
authors.initials: MA
authors.lastname: Leehey
authors.forename: C M
authors.initials: CM
authors.lastname: Filley
authors.forename: E
authors.initials: E
authors.lastname: Steinbart
authors.forename: T
authors.initials: T
authors.lastname: Montine
authors.forename: G D
authors.initials: GD
authors.lastname: Schellenberg
authors.forename: P
authors.initials: P
authors.lastname: Bosque
authors.forename: R
authors.initials: R
authors.lastname: Nixon
authors.forename: T
authors.initials: T
authors.lastname: Bird
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D003704:Dementia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D017096:Prion Diseases / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D011328:Prions / Q000235:genetics* / Q000378:metabolism
chemical_list: D011328:Prions