Long-term follow-up in infantile-onset SCAR18: A case report

J Clin Neurosci. 2020 Jul:77:232-234. doi: 10.1016/j.jocn.2020.05.008. Epub 2020 May 6.


Autosomal recessive spinocerebellar ataxia type 18 (SCAR18) is caused by pathogenic variants in the Glutamate Receptor, Ionotropic, Delta-2 (GRID2) gene. We describe the long-term follow-up from 1 to 31 years of an Italian patient with congenital SCAR18 who is compound heterozygous for a maternally-inherited nonsense variant and a de novo microdeletion. To date, this is the longest follow-up in congenital SCAR18.

Keywords: Ataxia; Cerebellar atrophy; GRID2; SCAR18.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Humans
  • Infant
  • Longitudinal Studies
  • Male
  • Mutation
  • Receptors, Glutamate / genetics
  • Spinocerebellar Degenerations / genetics
  • Spinocerebellar Degenerations / pathology*
  • Spinocerebellar Degenerations / physiopathology
  • Young Adult


  • Receptors, Glutamate
  • glutamate receptor delta 2

Supplementary concepts

  • Sensorimotor neuropathy with ataxia, autosomal dominant