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Article

A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L).

Internal medicine (Tokyo, Japan) - 1 Jan 2010

Takazawa Takanori, Ikeda Ken, Ito Hirono, Aoyagi Joe, Nakamura Yoshikazu, Miura Ken, Iwamoto Konosuke, Kano Osamu, Kawabe Kiyokazu, Iwasaki Yasuo

Abstract excerpt

Gerstmann-Sträussler-Scheinker Syndrome (GSS) is an inherited prion disease characterized by midlife onset and slowly progression of cerebellar ataxia and dementia. We report a distinct phenotype of leg hyperreflexia in a Japanese family with GSS. A 38-year-old woman noticed unsteady gait at 33 years of age. Afterwards, dysarthria and writing difficulty were appeared. Her family history revealed that her...

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Source

Identifiers

PMID: 20154442
DOI: 10.2169/internalmedicine.49.2864

Genes

GSS
PRNP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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