NR ATWB
AU Rodriguez,M.M.; Peoc'h,K.; Haik,S.; Bouchet,C.; Vernengo,L.; Manana,G.; Salamano,R.; Carrasco,L.; Lenne,M.; Beaudry,P.; Launay,J.M.; Laplanche,J.L.
TI A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease
QU Neurology 2005 Apr 26; 64(8): 1455-7
PT case reports; journal article
AB Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were characterized by an early age at onset, initial neuropsychiatric symptoms, late dementia with prominent pyramidal and extrapyramidal symptoms, and long disease duration.
MH Adolescent; Adult; Age of Onset; Amino Acid Substitution/genetics; Amyloid/*genetics; Biopsy; Brain/metabolism/pathology/*physiopathology; Chromosome Aberrations; DNA Mutational Analysis; Dementia/genetics/pathology/physiopathology; Disease Progression; Fatal Outcome; Female; Frontal Lobe/metabolism/pathology/physiopathology; Genetic Predisposition to Disease/*genetics; Genetic Screening; Humans; Male; Mutation/*genetics; Personality Disorders/genetics/pathology/physiopathology; Prion Diseases/*genetics/pathology/physiopathology; Protein Precursors/*genetics; Pyramidal Tracts/metabolism/pathology/physiopathology; Uruguay
AD Departamento de Genetica, Facultad de Medicina, Montevideo, Uruguay.
SP englisch
PO USA