Rinsho Shinkeigaku (Clinical Neurology)

Invited Review

Recent clinical advances in hereditary spinocerebellar degeneration

Ichiro Yabe, M.D., Ph.D.

Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University

Spinocerebellar degeneration (SCD) is a neurodegenerative disorder characterized by cerebellar ataxia and other multisystem manifestations, such as Parkinsonism and pyramidal tract symptoms. No effective treatment is available for SCD. Approximately one-third of the cases of SCD are inherited, and the remaining two-third are sporadic, including multiple system atrophy. This article provides an overview of hereditary SCD, its clinical features, recent treatment advances, biomarkers, role of genomic medicine, and future treatment prospects.
Full Text of this Article in Japanese PDF (994K)

(CLINICA NEUROL, 64: 135|147, 2024)
key words: Hereditary spinocerebellar degeneration, biomarker, presymptomatic genetic testing, genomic medicine

(Received: 21-Nov-23)