Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Spectrin-associated autosomal recessive cerebellar ataxia

Disease definition

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).


Classification level: Disorder
  • Synonym(s):
    • Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
    • Autosomal recessive spinocerebellar ataxia type 14
    • Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
    • SCAR14
    • SPARCA
    • SPARCA1
    • Spectrin-associated autosomal recessive cerebellar ataxia type 1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: G11.1
  • OMIM: 615386
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.