Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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.

PubMed Disclaimer

References

    1. Esclaire F, Kisby G, Spencer P, Milne J, Lesort M, Hugon J (1999) The Guam cycad toxin methylazoxymethanol damages neuronal DNA and modulates mRNA expression and excitotoxicity. Exp Neurol 155:11–21. https://doi.org/10.1006/exnr.1998.6962 - DOI - PubMed
    1. Murch SJ, Cox PA, Banack SA, Steele JC, Sacks OW (2004) Occurrence of β-N-methylamino-l-alanine (BMAA) in ALS/PDC patients from Guam. Acta Neurol Scand 110:267–269. https://doi.org/10.1111/j.1600-0404.2004.00320.x - DOI - PubMed
    1. Yase Y (1972) The pathogenesis of Amyotrophic lataral sclerosis. Lancet 12:292–296. https://doi.org/10.1016/s0140-6736(72)92903-0 - DOI
    1. Haddock RL, Chen KM (2003) Amyotrophic lateral sclerosis and diabetes on Guam: changing patterns of chronic disease in an island community. Southeast Asian J Trop Med Public Health 34:659–661 - PubMed
    1. Tomiyama H, Kokubo Y, Sasaki R, Li Y, Imamichi Y, Funayama M, Mizuno Y, Hattori N, Kuzuhara S (2008) Mutation analyses in amyotrophic lateral sclerosis/parkinsonism–dementia complex of the Kii Peninsula, Japan. Mov Disord 23:2344–2348. https://doi.org/10.1002/mds.22262 - DOI - PubMed

LinkOut - more resources