A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease.

doi:10.1136/jnnp.62.5.454

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Article

A Japanese family with a variant of Gerstmann-Sträussler-Scheinker disease.

Journal of neurology, neurosurgery, and psychiatry - 1 May 1997

Tanaka Y, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H

Abstract excerpt

OBJECTIVE: A new variant of Gerstmann-Sträussler-Scheinker disease (GSS) was reported, which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene. However, clinical features were not detailed and pathological studies wer...

Topics

Adult
Alleles
Cerebral Cortex
Codon
Gerstmann-Straussler-Scheinker Disease
Humans
Japan
Male
Middle Aged
Pedigree
Point Mutation
Polymorphism, Genetic

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