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

      Highlights

      • GRID2 homozygous deletions or pathogenic variants cause SCAR18.
      • Severity depends on heterozygous/ homozygous state, onset age, variant position.
      • We report on the oldest (31-year-old) patient with congenital-onset SCAR18.
      • Association of deletion and loss of function variant can lead to early-onset SCAR18.
      • Stable cerebellar atrophy was documented between 14 and 30 years.

      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.

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