Gerstmann-Sträussler-Scheinker disease with P102L prion protein gene mutation presenting with rapidly progressive clinical course

Yasushi Iwasaki, Keiko Mori, Masumi Ito, Kazuya Nokura, Shinsui Tatsumi, Maya Mimuro, Tetsuyuki Kitamoto, Mari Yoshida

研究成果: Article

7 引用 (Scopus)

抜粋

We describe an autopsied case of a Japanese woman with Gerstmann-Sträussler-Scheinker disease (GSS) presenting with a rapidly progressive clinical course. Disease onset occurred at the age of 54 with dementia and gait disturbance. Her clinical course progressively deteriorated until she reached a bedridden state with myoclonus 9 months after onset. Two months later, she reached the akinetic mutism state. Nasal tube feeding was introduced at this point and continued for several years. Electroencephalograms showed diffuse slowing without periodic sharp-wave complexes. Diffusion-weighted magnetic resonance imaging (MRI) showed widespread cerebral cortical hyperintensity. Prion protein (PrP) gene analysis revealed a Pro to Leu point mutation at codon 102 with methionine homozygosity at codon 129. The patient died of respiratory failure after a total disease duration of 62 months. Neuropathologic examination revealed widespread spongiform change with numerous eosinophilic amyloid plaques (Kuru plaques) in the cerebral and cerebellar cortices by H & E staining. Diffuse myelin pallor with axon loss of the cerebral white matter, suggestive of panencephalopathic-type pathology, was observed. Numerous PrP immunopositive plaques and diffuse synaptic-type PrP deposition were extensively observed, particularly in the cerebral and cerebellar cortices. Western blot analysis of proteinase Kresistant PrP showed a characteristic band pattern with a small molecular band of 6 kDa. The reason for the similarity in clinicopathologic findings between the present case and Creutzfeldt-Jakob disease is uncertain; however, the existence of an unknown disease-modifying factor is suspected.

元の言語English
ページ(範囲)344-353
ページ数10
ジャーナルClinical Neuropathology
33
発行部数5
DOI
出版物ステータスPublished - 2014

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology

フィンガープリント Gerstmann-Sträussler-Scheinker disease with P102L prion protein gene mutation presenting with rapidly progressive clinical course' の研究トピックを掘り下げます。これらはともに一意のフィンガープリントを構成します。

  • これを引用