Different complicated brain pathologies in monozygotic twins with Gerstmann-Sträussler-Scheinker disease

Hiroyuki Honda, Kensuke Sasaki, Hiroshi Takashima, Daisuke Mori, Sachiko Koyama, Satoshi O. Suzuki, Toru Iwaki

Research output: Contribution to journalArticle

Abstract

Gerstmann-Sträussler-Scheinker disease (GSS) is an autosomal, dominantly inherited prion disease. In this study, we present different complicated brain pathologies determined postmortem of monozygotic GSS twin sisters. Case 1 showed cerebellar ataxia at the age of 58 years, and died at 66 years. Case 2 became symptomatic at the age of 75 years, and died at 79 years. There was a 17-year difference in the age of onset between the twins. Postmortem examination revealed numerous prion protein (PrP) plaques in the brains of both cases. The spongiform change and brain atrophy in case 1 were more severe compared with those in case 2. Western-blot analysis identified proteinase-resistant PrP (PrPres) at the molecular weight of 21-30 kDa and 8 kDa in the twins. Gel filtration revealed that PrPres was mainly composed of PrP oligomer. PrPres signal patterns were similar between the twins. Additionally, case 1 showed α-synucleinopathy and case 2 showed Alzheimer disease pathology. These different proteinopathies were involved in the amyloid plaque formations of both cases. The degree of GSS pathology was mainly related to disease duration. The amyloid plaque formations could be decorated by concomitant neuropathological changes such as a-synucleinopathy and tauopathy.

Original languageEnglish
Pages (from-to)854-863
Number of pages10
JournalJournal of neuropathology and experimental neurology
Volume76
Issue number10
DOIs
Publication statusPublished - Jan 1 2017

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Monozygotic Twins
Pathology
Amyloid Plaques
Brain
Tauopathies
Cerebellar Ataxia
Prion Diseases
Age of Onset
Atrophy
Gel Chromatography
Siblings
Autopsy
Peptide Hydrolases
Molecular Weight
Western Blotting
Prion Proteins

All Science Journal Classification (ASJC) codes

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

Cite this

Different complicated brain pathologies in monozygotic twins with Gerstmann-Sträussler-Scheinker disease. / Honda, Hiroyuki; Sasaki, Kensuke; Takashima, Hiroshi; Mori, Daisuke; Koyama, Sachiko; Suzuki, Satoshi O.; Iwaki, Toru.

In: Journal of neuropathology and experimental neurology, Vol. 76, No. 10, 01.01.2017, p. 854-863.

Research output: Contribution to journalArticle

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