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

Epidemiology

Central features

Peripheral features

Other COA7 mutation manifestations

Blood tests

Other investigations

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)