A new inherited prion disease (PrP‐P105L mutation) showing spastic paraparesis

Tetsuyuki Kitamoto, Naoji Amano, Yasu Terao, Yoshihiko Nakazato, Toshiyuki Isshiki, Tomohiko Mizutani, Jun Tateishi

Research output: Contribution to journalArticlepeer-review

105 Citations (Scopus)


We report the clinicopathological findings of 5 patients with an inherited prion disease with a codon 105 (Pro to Leu) mutation. All of the patients had a spastic gait disturbance and progressive dementia without either cerebellar signs, myoclonus, or periodic synchronous discharges. Autopsy of 3 patients revealed numerous amyloid plaques in the cerebral cortex, especially in the motor cortex and the frontal lobe where neuronal loss and severe gliosis were observed in the absence of spongiform changes. The cerebellum was preserved histologically except for only a few amyloid plaques. The pyramidal tracts in the brainstem and spinal cord showed vacuolated changes and a loss of myelin, but no prion protein accumulations. Thus, the prion protein codon 105 mutation is considered to correspond to a new variant to the Gerstmann‐Sträussler syndrome with spastic paraparesis.

Original languageEnglish
Pages (from-to)808-813
Number of pages6
JournalAnnals of Neurology
Issue number6
Publication statusPublished - 1993 Dec
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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