• Users Online: 767
  • Print this page
  • Email this page
Year : 2022  |  Volume : 5  |  Issue : 2  |  Page : 93-105

Unraveling movement disorders in spinocerebellar ataxia

1 Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Neurology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India

Correspondence Address:
Prof. Achal K Srivastava
Department of Neurology, Room number 60, Ground floor, Neurosciences Center, All India Institute of Medical Sciences, New Delhi - 110 029
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/AOMD.AOMD_61_21

Rights and Permissions

Spinocerebellar ataxia (SCA) is a clinically heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum and its associated connections. Genetic defects causing SCA include trinucleotide repeat expansions in the coding and non-coding regions of the genes, gene rearrangements, and conventional mutations. Various non-ataxic manifestations, such as dementia, peripheral neuropathy, and movement disorders (MDs) are described in SCA. MDs are the most common non-ataxic manifestations of SCA, and their prevalence and type vary according to the underlying genetic defects as well as the geographical and ethnic differences. In addition to the size of the repeat expansions, genetic modifiers contribute to the phenotypic pleiotropy of SCA. When present in association with ataxia, MDs may provide an important diagnostic clue for genotyping. However, patients with SCA presenting with MDs can be a diagnostic challenge when cerebellar ataxia is subtle or absent. Certain MDs may be more frequent in particular SCA subtypes compared to others. Similarly, MD may be an infrequent but pertinent manifestation in specific subtypes of SCA. Knowledge about MDs in SCA can help clinicians choose the genetic tests appropriately. Our paper comprehensively reviews the spectrum of MDs in SCA, and attempt to guide clinicians in choosing appropriate genetic tests for SCA in patients presenting with isolated or prominent MDs.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded214    
    Comments [Add]    

Recommend this journal