Revisiting the heidenhain variant of creutzfeldt-jakob disease: Evidence for prion type variability influencing clinical course and laboratory findings

Simone Baiardi, Sabina Capellari, Anna Ladogana, Silvia Strumia, Mario Santangelo, Maurizio Pocchiari, Piero Parchi

Research output: Contribution to journalArticlepeer-review

Abstract

The Heidenhain variant defines a peculiar clinical presentation of sporadic Creutzfeldt-Jakob disease (sCJD) characterized by isolated visual disturbances at disease onset and reflecting the early targeting of prions to the occipital cortex. Molecular and histopathological typing, thus far performed in 23 cases, has linked the Heidenhain variant to the MM1 sCJD type. To contribute a comprehensive characterization of cases with the Heidenhain variant, we reviewed a series of 370 definite sCJD cases. Eighteen patients (4.9) fulfilled the selection criteria. Fourteen of them belonging to sCJD types MM1 or MM12C had a short duration of isolated visual symptoms and overall clinical disease, a high prevalence of periodic sharp-wave complexes in EEG, and a marked increase of cerebrospinal fluid proteins t-tau and 14-3-3 levels. In contrast, three cases of the MM 2C or MM 21C types showed a longer duration of isolated visual symptoms and overall clinical disease, non-specific EEG findings, and cerebrospinal fluid concentration below threshold for the diagnosis of "probable" CJD of both 14-3-3 and t-tau. However, a brain DWI-MRI disclosed an occipital cortical hyperintensity in the majority of examined cases of both groups. While confirming the strong linkage with the methionine genotype at the polymorphic codon 129 of the prion protein gene, our results definitely establish that the Heidenhain variant can also be associated with the MM 2C sCJD type in addition to the more common MM1 type. Likewise, our results highlight the significant differences in clinical evolution and laboratory findings between cases according to the dominant PrPSc type (type 1 versus type 2).

Original languageEnglish
Pages (from-to)465-476
Number of pages12
JournalJournal of Alzheimer's Disease
Volume50
Issue number2
DOIs
Publication statusPublished - 2016

Keywords

  • Dementia
  • molecular typing
  • neurodegenerative diseases
  • occipital cortex
  • prion diseases
  • prion protein

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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