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Article

A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease.

Acta neuropathologica communications - 19 Jun 2020

Nemani Satish K, Xiao Xiangzhu, Cali Ignazio, Cracco Laura, Puoti Gianfranco, Nigro Massimiliano, Lavrich Jody, Bharara Singh Anuradha, Appleby Brian S, Sim Valerie L, Notari Silvio, Surewicz Witold K, Gambetti Pierluigi

Abstract excerpt

One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development of therapeutic approaches. It is well established that, in many cases, phenotypic heterogeneity of sCJD is under control of two determinants: the genotype at the methionine (M)/valine (V) polymorphic codon...

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Identifiers

PMID: 32560672
DOI: 10.1186/s40478-020-00966-x
PMCID: PMC7304206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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