Insight into the early pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3/machado-joseph disease from mouse models

Parkinsonism Relat Disord. 2024 May 3:106991. doi: 10.1016/j.parkreldis.2024.106991. Online ahead of print.

Abstract

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is the most common subtype of hereditary ataxia (HA), which is characterized by motor deficits and a lack of effective treatments, and imposes a huge physical, mental, and financial burden on patients and their families. Therefore, it is important to study the early pathogenesis of spinal cerebellar ataxia type 3 based on a mouse model for subsequent preventive treatment and seeking new therapeutic targets.

Keywords: Early pathogenesis; Hereditary ataxia; Machado–joseph disease; Mouse models; SCA3; Spinocerebellar ataxia type 3.

Publication types

  • Review