A Diagnostic Approach to Spastic ataxia Syndromes

Cerebellum. 2022 Dec;21(6):1073-1084. doi: 10.1007/s12311-021-01345-5. Epub 2021 Nov 15.


Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.

Keywords: Ataxia; Hereditary ataxia; Hereditary spastic paraplegia; Spastic ataxia; Spastic paraplegia gene.

Publication types

  • Review

MeSH terms

  • Humans
  • Intellectual Disability* / genetics
  • Muscle Spasticity / diagnostic imaging
  • Muscle Spasticity / genetics
  • Mutation
  • Optic Atrophy* / genetics
  • Spastic Paraplegia, Hereditary* / genetics
  • Spinocerebellar Ataxias* / diagnostic imaging
  • Spinocerebellar Ataxias* / genetics
  • Syndrome

Supplementary concepts

  • Spastic Ataxia