spinocerebellar ataxia with axonal neuropathy (SCAN1)

Pathology

• loss-of-function mutations in TDP1 may
  • interfere with DNA transcription
  • induce apoptosis in postmitotic neurons

Genetics

• autosomal recessive
• mutations in TDP1 gene

Clinical manifestations

• ataxia with peripheral axonal motor & sensory neuropathy
• distal muscular atrophy
• pes cavus
• steppage gait as seen in Charcot-Marie-Tooth neuropathy
• all affected individuals have normal intelligence

More general terms

• spinocerebellar ataxia (SCA)

Additional terms

• tyrosyl-DNA phosphodiesterase 1; tyr-DNA phosphodiesterase 1 (TDP1)