Related Experiment Video
Updated: Dec 21, 2025
07:40
Visualizing Scar Development Using SCAD Assay - An Ex-situ Skin Scarring Assay
Published on: April 28, 2022
3.2K
Long-term follow-up in infantile-onset SCAR18: A case report
Alessandro Iodice1, Carlotta Spagnoli2, Margherita Cangini2
1Child Neurology and Psychiatry Unit, Santa Chiara Hospital, APSS, Trento, Italy.
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.
