Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Key Points

• This research aims to identify genetic mutations related to autosomal recessive spinocerebellar ataxia-13.
• Identified a novel mutation in the GRM1 gene.
• Conducted genetic analysis in a Pakistani family.
• Reviewed existing variants of the GRM1 gene.
• Increased the total number of GRM1 variants to eight.
• Provided information useful for prenatal screening and genetic counseling.