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. 2022 Feb;43(2):1423-1425.
doi: 10.1007/s10072-021-05737-7. Epub 2021 Nov 15.

An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex

Yasumasa Kokubo  1 , Satoru Morimoto  2 , Ryogen Sasaki  3 , Masato Hasegawa  4 , Hiroyuki Ishiura  5 , Shoji Tsuji  5 , Mari Yoshida  6 , Naohisa Yamazoe  7 , Mitsukazu Miyazaki  7 , Shigeki Kuzuhara  8
Affiliations

An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex

Yasumasa Kokubo et al. Neurol Sci. 2022 Feb.

Abstract

Objectives: 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.

Methods: 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.

Results: 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.

Discussion: The findings in an immigrant family established that certain environmental factors play a critical role in the pathogenesis of Kii ALS/PDC.

Keywords: Amyotrophic lateral sclerosis; Guam; Immigrant; Kii; Papua; Parkinsonism–dementia complex.

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