Spinocerebellar ataxia with axonal neuropathy type 1 revisited.

•TDP1 mutation testing should be included in the diagnostic panel of recessive cerebellar ataxia with axonal neuropathy.•The clinical spectrum of spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1) includes mild cognitive deficits.•Common founder mutation could account for the shared haplotype surrounding the TDP1 gene in the affected population.