Despite ataxia being a recognised feature in some of the well-characterised mitochondrial syndromes such as MELAS, MERRF, NARP, POLG-related ataxia neuropathy spectrum (ANS) [7] that includes mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO), genetic testing for the above mutations is not always positive. The gene discussed is NPTX2; the disease is recessive mitochondrial ataxia syndrome.