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 Citations (Scopus)

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

Fingerprint

Codon
Atrophy
Genotype
Prions
Neurodegenerative Diseases
Nervous System
Phenotype
Brain
Acquired CJD
Prion Proteins
Protein

Keywords

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

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Cite this

Heterozygous genotype at codon 129 correlates with prolonged disease course in Heidenhain variant sporadic CJD : case report. / Townley, Ryan A.; Dawson, Elliot T.; Drubach, Daniel.

In: Neurocase, Vol. 24, No. 1, 02.01.2018, p. 54-58.

Research output: Contribution to journalArticle

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