[Recent clinical advances in hereditary spinocerebellar degeneration]

Rinsho Shinkeigaku. 2024 Mar 22;64(3):135-147. doi: 10.5692/clinicalneurol.cn-001931. Epub 2024 Feb 22.
[Article in Japanese]

Abstract

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.

Keywords: Hereditary spinocerebellar degeneration; biomarker; genomic medicine; presymptomatic genetic testing.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Cerebellar Ataxia*
  • Humans
  • Multiple System Atrophy*
  • Spinocerebellar Degenerations* / diagnosis
  • Spinocerebellar Degenerations* / genetics
  • Spinocerebellar Degenerations* / therapy