Neuro-respiratory pathology in spinocerebellar ataxia

J Neurol Sci. 2022 Dec 15:443:120493. doi: 10.1016/j.jns.2022.120493. Epub 2022 Nov 13.

Abstract

The spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders with an autosomal dominant inheritance. Symptoms include poor coordination and balance, peripheral neuropathy, impaired vision, incontinence, respiratory insufficiency, dysphagia, and dysarthria. Although many patients with SCA have respiratory-related complications, the exact mechanism and extent of this pathology remain unclear. This review aims to provide an update on the recent clinical and preclinical scientific findings on neuropathology causing respiratory insufficiency in SCA.

Keywords: Hypoglossal nerve; Medulla; Phrenic; Respiratory failure; Spinocerebellar ataxia.

Publication types

  • Review
  • Research Support, N.I.H., Extramural

MeSH terms

  • Deglutition Disorders*
  • Dysarthria
  • Humans
  • Neurology*
  • Respiratory Insufficiency*
  • Spinocerebellar Ataxias* / complications
  • Spinocerebellar Ataxias* / genetics