Gerstmann-Sträussler-Scheinker Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Gerstmann-Sträussler-Scheinker disease is an autosomal dominant adult-onset variably progressive familial central nervous system multisystem disorder typically characterized by dementia and various combinations of ataxia, parkinsonian signs, upper motor signs and/or amyotrophy, and aphasia.The illness is associated with 27 reported different mutations, stop codons, and/or duplications or repetitions inserted into the PRNP gene. Pathologically, there typically are multicentric amyloid plaques composed of the prion protein throughout the subcortical nuclei, cerebrum, and cerebellum. Diagnosis is by recognition of clinical manifestations with family history of similar illness and genetic analysis of the PRNP gene. The disease is unique in being both heritable and transmissible by inoculation of brain tissue to other animals. Treatment is symptomatic, but no therapies are known to delay the course of the illness.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages421-425
Number of pages5
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

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Keywords

  • Amyloid deposits
  • Ataxia
  • Creutzfeldt-Jakob disease
  • Fatal familial insomnia
  • Multicentric plaque
  • PRNP mutation
  • PRP protein
  • Spongiform encephalopathy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Farlow, M. (2014). Gerstmann-Sträussler-Scheinker Syndrome. In Encyclopedia of the Neurological Sciences (pp. 421-425). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00378-X