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

S. Ahmad; Bushra Khan; Hamza Shams; Go Hun Sao; Ambreen Gul; Rin Khang; Imran Ullah; Umm-e kalsoom

doi:10.1097/mcd.0000000000000552

January 30, 2026

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

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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.

Implication

Study identifies a mutation causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family, suggesting implications for genetic screening.

Abstract

This study raised the total number of GRM1 variants to eight and would be helpful in prenatal screening, genetic counseling, and carrier testing of other members in the Pakistani community.

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Cite This Study

Ahmad et al. (2026) studied this question.

synapsesocial.com/papers/698827b40fc35cd7a8846a5a https://doi.org/10.1097/mcd.0000000000000552

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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