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

Alessandro Iodice, Carlotta Spagnoli, Margherita Cangini, Luca Soliani, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Francesco Pisani, Carlo Fusco

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)232-234
Number of pages3
JournalJournal of Clinical Neuroscience
Volume77
DOIs
Publication statusPublished - Jul 2020

Keywords

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

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