Features include always present findings: Dysmetria, Shrinkage of the cerebellum (cerebellar atrophy), Gait ataxia, and Ataxia and others; and common findings: Tinnitus and Frequent falls. 14 total HPO annotations.

GRM1 encodes glutamate metabotropic receptor 1 (1,194 aa). G-protein coupled receptor for glutamate. Highest expression in Brain Cerebellar Hemisphere (38.3 TPM) and Brain Cerebellum (30.6 TPM).

Spinocerebellar ataxia 44 is associated with mutations in the GRM1 gene on chromosome 6.

The GRM1 protein participates in L-Glutamate or L-Aspartate and 5' nucleotide bind umami taste receptor (TAS1R1:TAS1R3) and Sensory perception of taste pathways.

GRM1 is classified as a druggable target (Druggable Genome, G Protein Coupled Receptor, and Transporter categories) with score 2.2.

Genetic testing for GRM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for spinocerebellar ataxia 44 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for spinocerebellar ataxia 44.

25 publications have been identified in PubMed for spinocerebellar ataxia 44. Research spans Diagnostic / Biomarker (28%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (20%).