Heterozygous genotype at codon 129 correlates with prolonged disease course in Heidenhain variant sporadic CJD: case report. Issue 1 (2nd January 2018)

• Record Type: Journal Article
• Authors: Townley, Ryan A.; Dawson, Elliot T.; Drubach, Daniel A.
• Is Part Of: Neurocase. Volume 24:Issue 1(2018)
• Page Start: 54
• Page End: 58
• Publication Date: 2018-01-02
• Subjects: Creutzfeldt-Jakob disease -- posterior cortical atrophy -- Codon 129 -- prion protein -- Heidenhain variant; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2018.1439067
• Languages: English
• ISSNs: 1355-4794

Abstract

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.