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Arch Neurol. 2001 Nov;58(11):1899-902.

A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

Author information

1
Department of Neuropathology, Royal Perth Hospital, Wellington Street, Perth, Western Australia 6000. peter.panegyres@rph.health.wa.gov.au

Abstract

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 beta-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.

PMID:
11709001
[Indexed for MEDLINE]

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