Although SURF1, SCO2 and some PDHA1-patients could be clinically well-defined, collection of such symptoms as median disease manifestation at 13 months, muscular hypotonia, hypertrichosis, ataxia and bilateral lesions in brainstem and/or basal ganglia are typical for the SURF1 gene cases. The gene discussed is PDHA1; the disease is cerebellar ataxia.