New MDS criteriaの注目点—全体像および遺伝学的観点から

New MDS Criteria for the Diagnosis of Multiple System Atrophy: Overview and Genetic Viewpoint

多系統萎縮症の診断基準としては，2008年に発表された診断基準が幅広く用いられてきたが，早期に信頼性の高い診断を可能にすることを目的として，新診断基準が提案され，“clinically established MSA”，“clinically probable MSA”，“possible prodromal MSA” という新たなカテゴリーが設定され，実用性の高いものとなっている。一方，遺伝学の点からは，家族性MSAへの積極的な言及が含まれておらず，課題となっている。

Abstract

A new diagnostic criteria for multiple system atrophy, “The Movement Disorder Society Criteria for the Diagnosis of Multiple System Atrophy (MSA)”, has been proposed. Under the new criteria, new categories of “clinically established MSA,” “clinically probable MSA,” and “possible prodromal MSA” have been introduced. The new diagnostic criteria is expected to facilitate early and accurate diagnosis of MSA in clinical practice for MSA patients and clinical trials for MSA. In the diagnostic criteria, “A sporadic, progressive adult (＞30 years) onset disease” is described as an “essential feature of MSA,” and thus attention to familial occurrence of MSA is not included. Familial occurrence of MSA, however, was recognized first in Japan, and later in the world. We have witnessed discoveries of numerous genes underlying other neurodegenerative diseases, including Parkinson disease, and therefore application of molecular genetics research for MSA is highly expected to contribute to elucidating the molecular basis of MSA. Although the new diagnostic criteria is designed to facilitate early and accurate diagnosis of sporadic MSA, we simultaneously need to pay attention to familial occurrence of MSA and promotion of molecular genetics research of MSA.