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Among the various central nervous system (CNS) manifestations of mitochondrial disorders (MIDs), cognitive impairment is increasingly recognized and diagnosed (mitochondrial cognitive dysfunction). Aim of the review was to summarize recent findings
concerning the aetiology, pathogenesis, diagnosis and treatment of cognitive decline in MIDs. Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial
encephalopathy, lactic acidosis and stroke‐like episodes syndrome, myoclonus epilepsy with ragged‐red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns–Sayre syndrome, neuropathy, ataxia and retinitis
pigmentosa syndrome and maternally inherited diabetes and deafness. Among syndromic MIDs due to nuclear DNA (nDNA) mutations, cognitive decline has been reported in myo‐neuro‐gastro‐intestinal encephalopathy,
mitochondrial recessive ataxia syndrome, spinocerebellar ataxia with encephalopathy, Mohr–Tranebjaerg syndrome, leuko‐encephalopathy; brain and spinal cord involvement and lactic acidosis, CMT2, Wolfram
syndrome, Wolf–Hirschhorn syndrome and Leigh syndrome. In addition to syndromic MIDs, a large number of non‐syndromic MIDs due to mtDNA as well as nDNA
mutations have been reported, which present with cognitive impairment as the sole or one among several other CNS manifestations of a MID. Delineation of mitochondrial cognitive impairment from other types of cognitive impairment is essential to guide
the optimal management of these patients. Treatment of mitochondrial cognitive impairment is largely limited to symptomatic and supportive measures. Cognitive impairment may be a CNS manifestation of syndromic as well as non‐syndromic MIDs.
Correct diagnosis of mitochondrial cognitive impairment is a prerequisite for the optimal management of these patients.