This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Various clinical presentations of familial prion disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

The various prion protein mutations and their associated phenotypes are given below:

  • similar to sporadic CJD:
    • codon 178 (with valine at codon 129)
    • codons 200, 210, 232
    • codon 198 may give a CJD syndrome
    • insert mutations may give CJD or GSS

  • slowly progressive dementia:
    • codon 145

  • slowly progressive ataxia, upper motor neurone signs and dementia:
    • codon 102 is the common cause of GSS
    • insert mutations may give CJD or GSS
    • codon 117

  • insomnia, dysautonomia and dementia:
    • codon 187 (with methionine at codon 129), the cause of FFI

Key:

  • CJD = Creutzfeldt-Jacob disease
  • GSS = Gerstmann-Straussler-Sheinker disease
  • FFI = fatal familial insomnia

Reference:

  • 1) Will, RG. "Prion related disorders". (1999) J. Roy. Col. Physicians. 33(4), 311-5

Related pages

Create an account to add page annotations

Create a free account

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.