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A new inherited prion disease (PrP‐P105L mutation) showing spastic paraparesis
Author(s) -
Kitamoto Tetsuyuki,
Amano Naoji,
Terao Yasu,
Nakazato Yoshihiko,
Isshiki Toshiyuki,
Mizutani Tomohiko,
Tateishi Jun
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410340609
Subject(s) - gliosis , pathology , cerebellum , dementia , myoclonus , brainstem , medicine , cerebellar cortex , neuropathology , mutation , cerebral cortex , degenerative disease , neuroscience , biology , disease , genetics , gene
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.

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