ANO10 – Autosomal Recessive Spinocerebellar Ataxia 10

Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is caused by biallelic variants in ANO10. To date, five affected individuals from two unrelated families have been reported: three Irish siblings with homozygous ANO10 mutations presenting with progressive cerebellar ataxia, cognitive impairment and bladder dysfunction (PMID:30838263), and two siblings with early‐onset spastic ataxia featuring strabismus, horizontal pendular nystagmus and ptosis (PMID:40128498). Parental carrier segregation was confirmed in both families.

No dedicated functional studies of ANO10 variants have been published; a trial of coenzyme Q10 in the Irish sibship suggested symptomatic benefit but did not elucidate molecular mechanism. Mechanistic pathogenesis remains to be defined, and larger cohorts are required to refine phenotypic spectrum and validate potential therapies. Key take-home: ANO10 analysis should be included in gene panels for early‐onset recessive ataxia, with attention to oculomotor and cognitive features.

References

• Movement disorders clinical practice • 2017 • Anoctamin 10-Related Autosomal Recessive Cerebellar Ataxia: Comprehensive Clinical Phenotyping of an Irish Sibship. PMID:30838263
• Cerebellum (London, England) • 2025 • Pendular Nystagmus: a Novel Feature of ANO10-Related Disorders. PMID:40128498

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