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Article

An atypical phenotype of CJD associated with the E200K mutation in the prion protein gene.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2010

Masullo Carlo, Bizzarro Alessandra, Guglielmi Valeria, Iannaccone Elisabetta, Minicuci Giacomo, Vita Maria Gabriella, Capellari Sabina, Parchi Piero, Servidei Serenella

Abstract excerpt

E200K mutation of the prion protein gene (PRNP) presented with a variety of phenotypes. A 55-year-old woman complaining of slowly progressive walking difficulties came to our observation. She showed a severe progressive ataxo-spastic syndrome but a mild cognitive impairment only. Repeated EEGs showed a diffuse slowing of the rhythm without specificity. Brain MRI revealed by FLAIR showed widespread multiple...

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Identifiers

PMID: 20730466
DOI: 10.1007/s10072-010-0388-0

Genes

PRNP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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