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Article

Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Jan 2015

Chen Shuai, Guan Min, Shang Jun-Kui, He Shuang, Zhang Mi-Lan, Ma Ming-Ming, Zhang Jie-Wen

Abstract excerpt

The D178N mutation in the PRNP gene is associated with fatal familial insomnia and Creutzfeldt-Jakob disease (CJD). Typically, the D178N mutation associated with the 129M genotype is related to fatal familial insomnia while the same mutation associated with the 129V genotype is linked to familial...

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Source

Identifiers

PMID: 25220284
DOI: 10.1016/j.jocn.2014.05.040

Genes

PRNP
ASL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25220284-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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