Specifically, spinocerebellar ataxia with axonal neuropathy (SCAN1) and mutations in tyrosyl-DNA phosphodiesterase 1 (TDP1) gene; ataxia-telangiectasia-like disorder 1 with mutations in MRE11A gene; Cockayne syndrome carrying mutations in ERCC6 gene, and ten other conditions have been identified as diseases where neuronal function in brain is the primary target. The gene discussed is ERCC6; the disease is spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.