Interestingly, mutations in the ATL1, SPAST, RAB7A or KATNB1 genes have been previously associated with diseases presenting with hyperreflexia, sensory axonal neuropathy or sensory impairment among other signs, which overlap with clinical signs identified in this new ataxia subtype in our family (Supplementary Table 7). The gene discussed is SPAST; the disease is Sensory axonal neuropathy.