NR ALVY
AU Unverzagt,F.W.; Farlow,M.R.; Norton,J.; Dlouhy,S.R.; Young,K.; Ghetti,B.
TI Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S)
QU Journal of the International Neuropsychological Society 1997 Mar; 3(2): 169-78
PT journal article
AB Three patients with Gerstmann-Sträussler-Scheinker disease (GSS) caused by a serine-for-phenylalanine substitution at codon 198 of the prion protein gene (PRNP) were compared to 9 age- and education-matched non-mutation-carriers from the same large Indiana kindred (GSS-IK) on a comprehensive neuropsychological test battery. Clinically significant impairments in intelligence, secondary memory, attention and cognitive processing speed, executive ability, and manual motor skills were noted in 2 patients. The wide range and the severity of the cognitive deficits indicated generalized cerebral dysfunction consistent with global dementia. One patient, symptomatic for less than 1 year, had more selective deficits involving memory, motor skills, and verbal fluency, suggesting early subcortical involvement.
MH Adult; Brain Damage, Chronic/diagnosis/genetics; Chromosome Aberrations/genetics; Chromosome Disorders; Cognition Disorders/genetics/psychology; Female; Genes, Dominant/genetics; Gerstmann-Sträussler-Scheinker Disease/diagnosis/*genetics/psychology; Human; Intelligence/genetics; Male; Middle Age; *Neuropsychological Tests/statistics & numerical data; Risk Factors; Support, U.S. Gov't, P.H.S.
AD Department of Psychiatry, Indiana University School of Medicine, Indianapolis 46202, USA
SP englisch
PO England