Prion disease with 144 base pair insertion in a Japanese family line

Tatsuro Oda, Tetsuyuki Kitamoto, Jun Tateishi, Tsukasa Mitsuhashi, Kiyoshi Iwabuchi, Chie Haga, Eiichi Oguni, Yuji Kato, Itaru Tominaga, Kiyoshi Yanai, Haruo Kashima, Tatsuo Kogure, Koji Hori, Kohei Ogino

Research output: Contribution to journalArticlepeer-review

39 Citations (Scopus)


We describe an insert mutation in the prion protein (PrP) gene in a Japanese family line that encodes six octapeptide repeats. This is the second report to date of an inherited prion disease with a 144-base pair insertion, although the order of the repeat sequences differ from that reported for the disease in an English family line. The clinical features, like those in the English patients, were characterized by a slowly progressive generalized dementia with some neurological signs and cortical focal symptoms. Postmortem examination disclosed diffuse atrophy of cerebral gray matter and the cerebellar cortex; histologically, there were marked patchy and regional neuronal loss with astrocytosis in the frontal cortex, amygdala and hippocampus and PrP-immunoreactive plaques in the molecular layer of the cerebellum. These plaques were different from typical kuru plaques. The prion disease in the present Japanese family line is compared with that in the English family line.

Original languageEnglish
Pages (from-to)80-86
Number of pages7
JournalActa neuropathologica
Issue number1
Publication statusPublished - 1995 Jul
Externally publishedYes


  • Insert mutation
  • Prion disease
  • Prion protein

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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