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

Paola Imbriani, Girolama Alessandra Marfia, Maria Grazia Marciani, Anna Poleggi, Maurizio Pocchiari, Gianfranco Puoti, Carlo Caltagirone, Antonio Pisani

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Objective: To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD). Methods: Patients underwent neurological examination, electroencephalogram (EEG), brain magnetic resonance images (MRI) and cerebrospinal fluid (CSF) analysis including the Real Time Quaking Induced Conversion (RT-QuIC) test. Disease-specific mutations and polymorphism at codon 129 of the PRNP gene were also studied. Results: Isolated visual symptoms characterized disease onset of both patients followed by progressive neurological signs, dementia and death in 3 (proband) and 9 (his aunt) months. RT-QuIC analysis of CSF samples of both patients revealed the presence of the pathological prion protein and DNA analysis the V210I point mutation of the PRNP and methionine homozygosity at the polymorphic codon 129. Conclusions: This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia.

Original languageEnglish
Pages (from-to)381-383
Number of pages3
JournalInternational Journal of Neuroscience
Volume126
Issue number4
DOIs
Publication statusPublished - Apr 2 2016

Fingerprint

Creutzfeldt-Jakob Syndrome
Point Mutation
Codon
Genes
Cerebrospinal Fluid
Dementia
Isoleucine
Neurologic Examination
Valine
Genetic Testing
Methionine
Electroencephalography
Magnetic Resonance Spectroscopy
Mutation
Prion Proteins
DNA
Brain

Keywords

  • Creutzfeldt-Jakob disease
  • Heidenhain variant
  • mutation
  • PRNP gene
  • RT-QulC

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Heidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease. / Imbriani, Paola; Marfia, Girolama Alessandra; Marciani, Maria Grazia; Poleggi, Anna; Pocchiari, Maurizio; Puoti, Gianfranco; Caltagirone, Carlo; Pisani, Antonio.

In: International Journal of Neuroscience, Vol. 126, No. 4, 02.04.2016, p. 381-383.

Research output: Contribution to journalArticle

Imbriani, Paola ; Marfia, Girolama Alessandra ; Marciani, Maria Grazia ; Poleggi, Anna ; Pocchiari, Maurizio ; Puoti, Gianfranco ; Caltagirone, Carlo ; Pisani, Antonio. / Heidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease. In: International Journal of Neuroscience. 2016 ; Vol. 126, No. 4. pp. 381-383.
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