Spinocerebellar ataxia with axonal neuropathy (SCAN1)

Genetics

• This is usually caused by mutations in the TDP1 gene on chromosome 14q
• The gene product has a role in chromosomal repair
• SCAN1 may also be caused by mutations in the COA7 gene
• The transmission is autosomal recessive

References

1. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
2. El-Khamisy SF, Saifi GM, Weinfeld M, et al. Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. Nature 2005; 434:108-113.
3. Palau F, Espinós C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006, 1:47.
4. Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245–257.
5. Higuchi Y, Okunushi R, Hara T, et al. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain 2018; 141:1622-1636.
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Related checklists

• Ataxia telangiectasia (AT)
• Ataxia-telangiectasia like disorder (ATLD)
• COQ8A ataxia
• Cayman ataxia
• Cockayne syndrome
• Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
• Abetalipoproteinaemia
• Gordon Holmes syndrome (GHS)
• Autosomal recessive spinocerebellar ataxias (SCAR)
• Autosomal recessive cerebellar ataxia with STUB1 mutations
• Infantile-onset spinocerebellar ataxia (IOSCA)