Heterozygous genotype at codon 129 correlates with prolonged disease course in Heidenhain variant sporadic CJD: case report

Ryan A. Townley, Elliot T. Dawson, Daniel Drubach

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Sporadic Creutzfeldt–Jakob disease (sCJD) is a rapid and fatal neurodegenerative disease defined by misfolded prion proteins accumulating in the brain. A minority of cases initially present with posterior cortical atrophy (PCA) phenotype, also known as Heidenhain variant or visual variant CJD. This case provides further evidence of sCJD presenting as PCA. The case also provides evidence for early DWI changes and cortical atrophy over 30 months before neurologic decline and subsequent death. The prolonged disease course correlates with prion protein codon 129 heterozygosity and coexistence of multiple prion strains.

Original languageEnglish (US)
Pages (from-to)54-58
Number of pages5
JournalNeurocase
Volume24
Issue number1
DOIs
StatePublished - Jan 2 2018

Keywords

  • Codon 129
  • Creutzfeldt-Jakob disease
  • Heidenhain variant
  • posterior cortical atrophy
  • prion protein

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Heterozygous genotype at codon 129 correlates with prolonged disease course in Heidenhain variant sporadic CJD: case report'. Together they form a unique fingerprint.

  • Cite this