A case of Gerstmann-Sträussler-Scheinker syndrome with the P105L prion protein gene mutation presenting with ataxia and extrapyramidal signs without spastic paraparesis

Yasushi Iwasaki, Mayuki Kizawa, Norio Hori, Tetsuyuki Kitamoto, Gen Sobue

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)

Abstract

We describe the clinical features of a patient with Gerstmann-Sträussler-Scheinker syndrome with a mutation in the prion protein gene at codon 105 (GSS105) who presented with ataxia. Neurologic examination showed memory disturbance, dysarthria, extrapyramidal signs (bradykinesia and resting tremor) and ataxic gait without spasticity. Although GSS105 has been referred to as "spastic paraparesis-type GSS", the patient did not show spastic paraparesis or pyramidal signs, even 11 years after the onset of symptoms. Thus, the spectrum of the GSS105 phenotype varies among patients and requires further clinicopathologic elucidation.

Original languageEnglish
Pages (from-to)606-609
Number of pages4
JournalClinical Neurology and Neurosurgery
Volume111
Issue number7
DOIs
Publication statusPublished - 2009 Sep 1

Keywords

  • Ataxia
  • Cerebellar atrophy
  • Codon 105
  • Extrapyramidal sign
  • Gerstmann-Sträussler-Scheinker syndrome
  • Prion protein gene

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

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