紀伊半島の筋萎縮性側索硬化症／パーキンソン認知症複合—疾患概念の変遷と診断基準の位置づけ

Diagnostic Criteria for Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex in the Kii Peninsula, Japan

紀伊半島南部に多発する筋萎縮性側索硬化症（ALS）はかつて牟婁病とよばれたが，最近の研究によりheterogeneousな疾患群という新たな疾患概念が提唱された。牟婁病には，現時点で少なくとも，①孤発性ALS（タウオパチーを伴わない），②紀伊ALS/PDC（タウオパチー），③C9orf72変異例，④OPTN変異例の4型が存在する。2014年に策定された診断基準は，グアム島のALS/パーキンソン認知症複合（PDC）に近似し，タウオパチーを病態の基調とする紀伊ALS/PDCを規定するものである。

Abstract

The diagnostic criteria for amyotrophic lateral sclerosis/parkinsonism-dementia complex in the Kii peninsula of Japan (Kii ALS/PDC) have been proposed. Muro disease has been consideved an endemic neurodegenerative disease in the southern part of the Kii peninsula. Recent intensive and comprehensive research has revealed it to be a complex and genetically heterogeneous disease. At present, there are four subtypes of Muro disease: sporadic amyotrophic lateral sclerosis (ALS), Kii ALS/PDC with tauopathy, ALS with C9orf72 gene mutation, and ALS with optineurin gene mutation. The present criteria are applicable to only one of these subtypes, Kii ALS/PDC with tauopathy, which is quite similar to ALS/PDC in Guam.

(Received January 20, 2015; Accepted February 24, 2015; Published July 1 2015)