title: A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.
abstract: 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.
authors.affiliation: Departamento de Genetica, Facultad de Medicina, Montevideo, Uruguay.
authors.forename: M-M
authors.initials: MM
authors.lastname: Rodriguez
authors.forename: K
authors.initials: K
authors.lastname: Peoc'h
authors.forename: S
authors.initials: S
authors.lastname: Haïk
authors.forename: C
authors.initials: C
authors.lastname: Bouchet
authors.forename: L
authors.initials: L
authors.lastname: Vernengo
authors.forename: G
authors.initials: G
authors.lastname: Mañana
authors.forename: R
authors.initials: R
authors.lastname: Salamano
authors.forename: L
authors.initials: L
authors.lastname: Carrasco
authors.forename: M
authors.initials: M
authors.lastname: Lenne
authors.forename: P
authors.initials: P
authors.lastname: Beaudry
authors.forename: J-M
authors.initials: JM
authors.lastname: Launay
authors.forename: J-L
authors.initials: JL
authors.lastname: Laplanche
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D000682:Amyloid / Q000235:genetics*; D001706:Biopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D003704:Dementia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010554:Personality Disorders / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D017096:Prion Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*; D011712:Pyramidal Tracts / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D014583:Uruguay
chemical_list: D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors