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spinocerebellar ataxia with axonal neuropathy (SCAN1)

Pathology: - loss-of-function mutations in TDP1 may a) interfere with DNA transcription b) induce apoptosis in postmitotic neurons Genetics: 1) autosomal recessive 2) mutations in TDP1 gene Clinical manifestations: 1) ataxia with peripheral axonal motor & sensory neuropathy 2) distal muscular atrophy 3) pes cavus 4) steppage gait as seen in Charcot-Marie-Tooth neuropathy 4) all affected individuals have normal intelligence

Related

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

General

spinocerebellar ataxia (SCA)

References

  1. OMIM :accession 607250
  2. UniProt :accession Q9NUW8