Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S).
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.
Unverzagt
F W
FW
Department of Psychiatry, Indiana University School of Medicine, Indianapolis 46202, USA.
Farlow
M R
MR
Norton
J
J
Dlouhy
S R
SR
Young
K
K
Ghetti
B
B
D000328:Adult; D001925:Brain Damage, Chronic / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003072:Cognition Disorders / Q000235:genetics / Q000523:psychology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D016098:Gerstmann-Straussler-Scheinker Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D012307:Risk Factors