Kii ALS/PDC Research Center, Graduate School of Regional Innovation Studies, Mie University, 1577, Kurima-machiyamachiMie prefecture, Tsu, 514-8507, Japan.
Department of Oncologic Pathology, Mie University School of Medicine, Tsu, 514-8507, Japan.
Neurol Sci. 2022 Feb;43(2):1423-1425. doi: 10.1007/s10072-021-05737-7. Epub 2021 Nov 15.
Amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) is a unique endemic on Guam island of the USA, the Kii Peninsula of Japan, and Papua state of Indonesia. The pathomechanism of ALS/PDC remains to be solved, although interaction between some environmental factors and genetic background is plausible. This is the first autopsy-proven immigrant family of ALS/PDC of the Kii Peninsula.
A daughter and her father immigrated to the high incident area from outside the Kii Peninsula. The father developed ALS 18 years later after immigration, and his daughter also developed ALS 65 years after immigration. They showed pure ALS phenotype without parkinsonism and dementia.
The daughter was diagnosed neuropathologically with Kii ALS/PDC with multiple proteinopathies: tauopathy, α-synucleinopathy, and TDP-43 proteinopathy. Gene analysis of familial ALS-related genes, including C9orf72, showed no mutation.
The findings in an immigrant family established that certain environmental factors play a critical role in the pathogenesis of Kii ALS/PDC.
肌萎缩侧索硬化/帕金森病-痴呆复合征（ALS/PDC）是美国关岛、日本纪伊半岛和印度尼西亚巴布亚州特有的地方病。尽管一些环境因素与遗传背景之间的相互作用是合理的，但 ALS/PDC 的发病机制仍有待解决。这是首例在纪伊半岛经尸检证实的 ALS/PDC 移民家族。
一位女儿和她的父亲从纪伊半岛以外的地区移民到高发地区。父亲在移民 18 年后发展为 ALS，他的女儿在移民 65 年后也发展为 ALS。他们表现出纯 ALS 表型，没有帕金森病和痴呆。
女儿经神经病理学诊断为具有多种蛋白病的纪伊 ALS/PDC：tau opathy、α-synucleinopathy 和 TDP-43 蛋白病。包括 C9orf72 在内的家族性 ALS 相关基因分析未发现突变。
移民家族的研究结果表明，某些环境因素在纪伊 ALS/PDC 的发病机制中起着关键作用。
