Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Straussler-Scheinker Disease

被引：3

作者：

Honda, Hiroyuki ^{[1
]}

Sasaki, Kensuke ^{[1
]}

Takashima, Hiroshi ^{[2
]}

Mori, Daisuke ^{[3
]}

Koyama, Sachiko ^{[1
]}

Suzuki, Satoshi O. ^{[1
]}

Iwaki, Toru ^{[1
]}

机构：

[1] Kyushu Univ, Dept Neuropathol, Grad Sch Med Sci, Higashi Ku, 3-1-1 Maidashi, Fukuoka 8128582, Japan

[2] Saga Ken Med Ctr Koseikan, Dept Neurol, Saga, Japan

[3] Saga Ken Med Ctr Koseikan, Dept Pathol, Saga, Japan

来源：

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY | 2017年 / 76卷 / 10期

基金：

日本学术振兴会;

关键词：

Gerstmann-Straussler-Scheinker disease; Postmortem examination; Prion; Twin; CREUTZFELDT-JAKOB-DISEASE; INHERITED PRION DISEASE; MUTATION; BETA; OLIGOMERS; DEPOSITS; PRP;

D O I：

10.1093/jnen/nlx068

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Gerstmann-Straussler-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 alpha-synuclein-opathy 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 alpha-synuclein-opathy and tauopathy.

引用

页码：854 / 863

页数：10

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