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Heidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease

Paola Imbriani1, Girolama Alessandra Marfia1, Maria Grazia Marciani1

  • 1a Department of Systems Medicine , University of Rome "Tor Vergata" , Rome , Italy.

The International Journal of Neuroscience
|August 14, 2015
PubMed

Insights

Two family members with the V210I prion protein gene mutation presented with visual symptoms, mimicking Heidenhain variant Creutzfeldt-Jakob disease (CJD). Genetic testing is crucial for diagnosing this rare genetic CJD form.

Area of Science:

  • Neurogenetics
  • Prion Diseases

Background:

  • Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative disorder.
  • The Heidenhain variant of sporadic CJD typically presents with initial visual disturbances.

Observation:

  • Two family members presented with isolated visual symptoms at disease onset.
  • Both patients carried the V210I point mutation in the prion protein gene (PRNP) and methionine homozygosity at codon 129.
  • Clinical progression included neurological signs, dementia, and death within months.

Findings:

  • Real Time Quaking Induced Conversion (RT-QuIC) confirmed the presence of abnormal prion protein in cerebrospinal fluid (CSF).
  • Genetic analysis identified the PRNP V210I mutation and methionine homozygosity (129MM) in both affected individuals.
  • The presentation mimicked the Heidenhain variant of sporadic CJD.

Implications:

  • This case series suggests considering genetic CJD, specifically the V210I mutation, in patients with Heidenhain-like initial symptoms.
  • Early genetic testing is recommended for individuals presenting with isolated visual manifestations followed by progressive neurological decline and dementia.
  • Understanding genetic mutations aids in differential diagnosis and patient management for prion diseases.
Abstract

Keywords:
Creutzfeldt–Jakob diseaseHeidenhain variantPRNP geneRT-QuICmutation

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