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2021 Fiscal Year Final Research Report

Multicenter registration study aimed at identifying biomarkers and causative genes of Kii ALS

Research Project

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Project/Area Number 18H02743
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 52020:Neurology-related
Research InstitutionWakayama Medical University

Principal Investigator

Ito Hidefumi  和歌山県立医科大学, 医学部, 教授 (20250061)

Co-Investigator(Kenkyū-buntansha) 中山 宜昭  和歌山県立医科大学, 医学部, 助教 (50590436)
安井 昌彰  和歌山県立医科大学, 医学部, 助教 (50714284)
廣西 昌也  和歌山県立医科大学, 医学部, 教授 (80316116)
Project Period (FY) 2018-04-01 – 2022-03-31
Keywords筋萎縮性側索硬化症 / ALS / 紀伊 / 多施設共同 / レジストリ
Outline of Final Research Achievements

In this study, we prospectively enrolled all newly-onset ALS patients in Wakayama Prefecture diagnosed by specialists of the Japanese Society of Neurology, using the central registration system. The items to be registered covered basic patient information, medical history, motor symptoms, and test items for detecting non-motor symptoms that are expected to appear in Kii ALS patients. As a result, ALS patients who developed the disease in the Kinan area had a more frequent family history of Parkinson's disease, had significantly lower cognitive function at the time of diagnosis, and significantly more frequently showed orthostatic hypotension, than ALS patients from outside the prefecture.

Free Research Field

脳神経内科学

Academic Significance and Societal Importance of the Research Achievements

Kii ALSは従来、「古典的ALSの臨床像を呈する」とされており、生前に臨床診断することは困難と考えられてきた。そのため、Kii ALSと孤発性ALSを混合した集団を用いて遺伝解析せざるを得ず、原因遺伝子の特定は困難であった。今回の研究成果によってKii ALSを古典的ALSから識別する臨床的特徴が明らかになり、Kii ALSの臨床診断が従来より正確に行えるようになったことで、Kii ALSの原因同定の道が開け、治療法確立の可能性が高まった。

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Published: 2023-01-30  

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