NR AUAN
AU Hall,D.A.; Leehey,M.A.; Filley,C.M.; Steinbart,E.; Montine,T.; Schellenberg,G.D.; Bosque,P.J.; Nixon,R.; Bird,T.D.
TI PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia
QU Neurology 2005 Apr 12; 64(7): 1304-6
PT case reports; journal article
AB 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.
MH Adolescent; Adult; Age of Onset; Brain/metabolism/pathology/physiopathology; Child; DNA Mutational Analysis; Dementia/complications/*genetics/physiopathology; Disease Progression; Female; Genetic Predisposition to Disease/genetics; Genetic Screening; Humans; Male; Mental Disorders/complications/*genetics/physiopathology; Mental Retardation/complications/*genetics/physiopathology; Middle Aged; Mutation/genetics; Neurons/metabolism/pathology; Pedigree; Prion Diseases/complications/*genetics/physiopathology; Prions/*genetics/metabolism; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.
AD Department of Neurology, University of Colorado Health Sciences Center, Denver, CO 80262, USA. deborah.hall@uchsc.edu
SP englisch
PO USA