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Article

Single photon emission computed tomography (SPECT) findings of a patient with a novel prion mutation.

Internal medicine (Tokyo, Japan) - 1 Jan 2015

Matsuzono Kosuke, Morihara Ryuta, Sato Kota, Hishikawa Nozomi, Yamashita Toru, Deguchi Kentaro, Abe Koji

Abstract excerpt

We experienced a unique case of familial prion disease with a prion gene mutation that caused pan-autonomic failure, sensory neuropathy and mild cognitive impairment. No abnormal sites of intensity were observed on diffusion-weighted magnetic resonance image (MRI) over six to 11 years or fluid at...

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Identifiers

PMID: 25742899
DOI: 10.2169/internalmedicine.54.3378

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25742899-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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