Long-term follow-up in infantile-onset SCAR18: A case report.
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.
['Iodice|Alessandro|A|', 'Spagnoli|Carlotta|C|', 'Cangini|Margherita|M|', 'Soliani|Luca|L|', 'Rizzi|Susanna|S|', 'Salerno|Grazia Gabriella|GG|', 'Frattini|Daniele|D|', 'Pisani|Francesco|F|', 'Fusco|Carlo|C|']
D000293:Adolescent D000328:Adult D002648:Child D002675:Child, Preschool D005500:Follow-Up Studies D006801:Humans D007223:Infant D008137:Longitudinal Studies D008297:Male D009154:Mutation D017470:Receptors, Glutamate D013132:Spinocerebellar Degenerations D055815:Young Adult
SCAR18 Ataxia GRID2 Cerebellar atrophy