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Peter K. Panegyres, PhD, FRACP; Kathrine Toufexis, BSc (Hons); B. A. Kakulas, MD, FRCPA, FRACP; Larisa Cernevakova, MD; P. Brown, MD; B. Ghetti, MD; P. Piccardo, MD; S. R. Dlouhy, PhD

Arch Neurol. 2001;58:1899-1902.

Background  Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease.

Objective  To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease.

Patient and Methods  The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were performed, the results of which revealed abundant prion protein–immunopositive amyloid plaques in the cerebellum without spongiform degeneration.

Results  Genetic analysis of the prion protein gene showed a novel mutation at codon 131 that caused a valine-for-glycine substitution (G131V) and homozygosity at codon 129 (129M). Proteinase K–resistant prion protein was detected by Western blot analysis.

Conclusions  This is the first mutation described in the short, antiparallel ß-sheet domain of the prion protein. This report highlights the importance of genetic analysis of patients with atypical dementia even in the absence of a family history.

From the Department of Neuropathology, Royal Perth Hospital, Perth, Western Australia (Drs Panegyres and Kakulas and Ms Toufexis); Jerome H. Holland Laboratory, American Red Cross, Rockville, Md (Dr Cernevakova); Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md (Dr Brown); and Departments of Pathology and Laboratory Medicine (Drs Ghetti and Piccardo) and Medical and Molecular Genetics (Dr Dlouhy), Indiana University School of Medicine, Indianapolis.

Corresponding author and reprints: Peter K. Panegyres, PhD, Department of Neuropathology, Royal Perth Hospital, Wellington Street, Perth, Western Australia 6000 (e-mail: peter.panegyres{at}rph.health.wa.gov.au).

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