What is Spinocerebellar Ataxia, ANO10-related?

Spinocerebellar ataxia, ANO10-related, also known as SCAR10 or ARCA3, is an inherited condition characterized by progressive loss of one's ability to coordinate movement (ataxia). It is caused by harmful genetic changes (variants) in the ANO10 gene. Genetic changes in ANO10 cause damage (atrophy) to the part of the brain that controls balance and movement (cerebellum), which is what leads to the symptoms of the disorder.

Symptoms of spinocerebellar ataxia, ANO10-related usually begin in the second to fourth decade of life with loss of balance and poor coordination of walking. While symptoms get worse over time, most people retain the ability to walk independently for up to 25 years after the start of symptoms. Other common symptoms include speech difficulties (dysarthria), abnormal eye movements, and abnormalities on brain imaging. Additional features can vary among patients but can include seizures and cognitive delays.

How common is Spinocerebellar Ataxia, ANO10-related?

There are numerous types of spinocerebellar ataxias (SCAs). The exact incidence of spinocerebellar ataxia, ANO10-related is unknown. Over 50 cases of spinocerebellar ataxia, ANO10-related have been reported worldwide.

How is Spinocerebellar Ataxia, ANO10-related treated?

While there is no cure for spinocerebellar ataxia, ANO10-related, individuals often benefit from physical therapy to help prevent loss of strength and preserve mobility. Speech therapy can help with problems speaking and eating. Occupational therapy can be beneficial to aid with strategies for everyday activities. Some individuals may show symptom improvement with coenzyme Q10 treatment.

What is the prognosis for an individual with Spinocerebellar Ataxia, ANO10-related?

The outlook for a person with spinocerebellar ataxia, ANO10-related varies, depending on the severity of symptoms. Spinocerebellar ataxia, ANO10-related has a later onset and slower progression than other SCAs so lifespan can approach normal. A wheelchair may become necessary with this condition; however, this usually occurs many years after symptoms first start.

Other names for
spinocerebellar ataxia, ANO10-related

  • ARCA3
  • Autosomal recessive cerebellar ataxia type 3
  • SCAR10
  • Spinocerebellar ataxia, autosomal recessive 10

References

  • Chrysanthou et al., 2023, Cerebellum., 22:447-467, PMID: 35648332
  • Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390
  • Nanetti et al., 2019, J Neurol., 266(2):378-385, PMID: 30515630
  • OMIM: Online Mendelian Inheritance in Man, OMIM 613728, 2016, https://omim.org/entry/613728
  • Perlman, 2022, https://www.ncbi.nlm.nih.gov/books/NBK1138/