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.
Keywords
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References
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Article info
Publication history
Published online: May 06, 2020
Accepted:
May 1,
2020
Received:
March 26,
2020
Identification
Copyright
© 2020 Elsevier Ltd. All rights reserved.
