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 language | English (US) |
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Pages (from-to) | 54-58 |
Number of pages | 5 |
Journal | Neurocase |
Volume | 24 |
Issue number | 1 |
DOIs | |
State | Published - 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