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, Alessandro; Spagnoli, Carlotta; Cangini, Margherita; Soliani, Luca; Rizzi, Susanna; Salerno, Grazia Gabriella; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo. - In: JOURNAL OF CLINICAL NEUROSCIENCE. - ISSN 0967-5868. - In press(2020). [10.1016/j.jocn.2020.05.008]

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

Spagnoli, Carlotta;Pisani, Francesco;Fusco, Carlo
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.
Long-term follow-up in infantile-onset SCAR18: A case report / Iodice, Alessandro; Spagnoli, Carlotta; Cangini, Margherita; Soliani, Luca; Rizzi, Susanna; Salerno, Grazia Gabriella; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo. - In: JOURNAL OF CLINICAL NEUROSCIENCE. - ISSN 0967-5868. - In press(2020). [10.1016/j.jocn.2020.05.008]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11381/2876165
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