遺伝性脊髄小脳変性症と多系統萎縮症

抄録

We review the current status of treatment for hereditary spinocerebellar ataxia and multiple system atrophy and the methods used for evaluating ataxia symptoms. With the development of treatments for these disorders, the importance of genetic testing, including pre–symptomatic diagnosis, is expected to increase. Even in sporadic disease, multiple genes predisposing individuals to onset have been identified, and these results are expected to be applied to genomic medicine in the future. In order to perform appropriate medical care and targeted research, it is necessary to improve the clinician's and researcher's genetic literacy and cooperate smoothly with clinical genetics departments.