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.
Long-term follow-up in infantile-onset SCAR18: A case report / Iodice, A.; Spagnoli, C.; Cangini, M.; Soliani, L.; Rizzi, S.; Salerno, G. G.; Frattini, D.; Pisani, F.; Fusco, C.. - In: JOURNAL OF CLINICAL NEUROSCIENCE. - ISSN 0967-5868. - 77:(2020), pp. 232-234. [10.1016/j.jocn.2020.05.008]
Long-term follow-up in infantile-onset SCAR18: A case report
Pisani F.;
2020
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.| File | Dimensione | Formato | |
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