“…RRFs and COX-negative fibers | Valente et al [ 18 ] | 12 | NA | Deafness, cognitive impairment | NA | NA | Reduction complex I. RRFs | |
Salsano et al [ 19 ] | Puberty | F | Slowly progressive cognitive decline, behavioral disturbances, Wolff-Parkinson-White syndrome, hearing loss, weight loss, hyperkinesia (myoclonic jerks and tics), cerebellar symptoms and cortical and cerebellar atrophy | 95% (muscle), 40% (blood) | Elevated (serum), normal at re-evaluation (serum) | Reduction complex I. RRFs and COX-negative fibers | Variant absent in unaffected mother and sister (blood and urine). Schizophrenia and Wolff-Parkinson-White syndrome are reported for maternal aunts |
Sunami et al [ 10 ] | 45 | F | Severe cerebellar ataxia, myopathy, mild ophthalmoparesis, hearing loss, and asymptomatic EEG abnormality | 11% (peripheral leukocytes), 74% (muscle) | Normal (sample not specified) | RRFs, succinate dehydrogenase reactive vessels, COX-negative fibers | Family of 5 affected individuals in 4 generations |
Sunami et al [ 10 ] | NA | F | Hearing loss and glaucoma | NA | NA | NA | Family of 5 affected individuals in 4 generations |
Sunami et al [ 10 ] | 14 | F | Palindromic rheumatism, recurrent migraine. Multiple small hyperintense areas in subcortical white matter of cerebrum on T2 MRI | NA | NA | NA | Family of 5 affected individuals in 4 generations |
Sunami et al [ 10 ] | 36 | F | Photo-induced myoclonus, atrophy of cerebellum, absence of tendon reflexes, truncal ataxia, normal mental status | 16% (peripheral leukocytes) | NA | NA | Family of 5 affected individuals in 4 generations |
Sunami et al [ 10 ] | 15 | F | Generalized seizures, myoclonic jerks, slight cognitive decline, absence of tendon reflexes | 27% (peripheral leukocytes) | ... |
…”