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

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

Research output: Contribution to journalArticlepeer-review

Abstract

We experienced a unique case of familial prion disease with a prion gene mutation that caused panautonomic 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 attenuated inversion recovery MRI at six or nine years. However, 99mTc-ethylcysteinate dimer single photon emission computed tomography (SPECT) showed a decreased cerebral blood flow in the bilateral parietal and occipital lobes at nine years, which then expanded at 11 years, corresponding to mild atrophy in these areas on MRI. In some cases of prion mutations, particularly the slowly progressive type, SPECT may show abnormalities, while MRI does not.

Original languageEnglish
Pages (from-to)79-82
Number of pages4
JournalInternal Medicine
Volume54
Issue number1
DOIs
Publication statusPublished - 2015

Keywords

  • Autonomic disease
  • MRI
  • Prion disease
  • SPECT
  • Sensory neuropathy

ASJC Scopus subject areas

  • Internal Medicine

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