ArticleJournal of neurology2010
The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.
Article in Journal of neurology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Genome-Wide Assessment of Runs of Homozygosity by Whole-Genome Sequencing in Diverse Horse Breeds Worldwide.Genes · 2023Article
- Genetic Variant inInternational journal of molecular sciences · 2023Article
- A Novel Nonsense Variant inGenes · 2022Article
- Nitric Oxide Critically Regulates Purkinje Neuron Dendritic Development Through a Metabotropic Glutamate Receptor Type 1-Mediated Mechanism.Cerebellum (London, England) · 2020Article
- Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA).International journal of molecular sciences · 2019Review
- Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.American journal of human genetics · 2017Article
- Assessment of copy number variations in 120 patients with Poland syndrome.BMC medical genetics · 2016Article
- Pharmacological characterization of mGlu1 receptors in cerebellar granule cells reveals biased agonism.Neuropharmacology · 2015Article
- Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.American journal of human genetics · 2012Article
- An association study of the genetic polymorphisms in 13 neural plasticity-related genes with semantic and episodic memories.Journal of molecular neuroscience : MN · 2012Article
- Metabotropic glutamate receptors: from the workbench to the bedside.Neuropharmacology · 2011Review
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The metabotropic glutamate (mGlu) 1 receptor, coded by the GRM1 gene, is involved in synaptic activities, learning and neuroprotection. Eleven different mouse Grm1 mutations, either induced or spontaneously occurring, have been reported, including one from our group. All the mutations result in a complex phenotype with ataxia and intention tremor in mice. Moreover, autoantibodies against mGlu1 receptor have been associated with paraneoplastic cerebellar ataxia in humans. In spite of the large clinical and genetic heterogeneity displayed by the inherited forms of cerebellar ataxia, forms remain with a yet unknown molecular definition. With the evidence coming out from mouse models and from paraneoplastic ataxia, it seems that GRM1 represents a good candidate gene for early-onset ataxia forms, though no GRM1 mutations have thus far been looked for. The aim of this study was to investigate the possible involvement of GRM1 in early-onset or familial forms of ataxia. We searched for gene mutations in a panel of patients with early-onset ataxia as yet molecularly undefined. No causative mutations were found, though we detected synonymous variants in the exons and changes in flanking intronic sequences which are unlikely to alter correct splicing upon bioinformatics prediction. As for other known forms of inherited ataxias, absence of mutations in GRM1 seems to suggest a relatively low frequency in cerebellar ataxias.
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