Neuropsychological function in patients with Gerstmann-Straussler-Scheinker disease from the Indiana Kindred (F198S)

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Abstract

Three patients with Gerstmann-Staussler-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.

Original languageEnglish
Pages (from-to)169-178
Number of pages10
JournalJournal of the International Neuropsychological Society
Volume3
Issue number2
StatePublished - Mar 1997

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Gerstmann-Straussler-Scheinker Disease
Motor Skills
Aptitude
Neuropsychological Tests
Memory Disorders
Phenylalanine
Intelligence
Codon
Serine
Dementia
Education
Genes

Keywords

  • Cognition
  • Dementia
  • Genetic disorder
  • Gerstmann-Straussler-Scheinker disease
  • Neuropsychological testing

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Psychiatry and Mental health
  • Neuroscience(all)
  • Psychology(all)

Cite this

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title = "Neuropsychological function in patients with Gerstmann-Straussler-Scheinker disease from the Indiana Kindred (F198S)",
abstract = "Three patients with Gerstmann-Staussler-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.",
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author = "Frederick Unverzagt and Martin Farlow and James Norton and Stephen Dlouhy and Katherine Young and Bernardino Ghetti",
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AU - Unverzagt, Frederick

AU - Farlow, Martin

AU - Norton, James

AU - Dlouhy, Stephen

AU - Young, Katherine

AU - Ghetti, Bernardino

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