“…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) | NA | NA | Family of 5 affected individuals in 4 generations |
Emmanuele et al [ 13 ] | 43 | M | Progressive myoclonus epilepsy, cerebellar ataxia, cortical and cerebellar atrophy, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopathy, bifascicular heart block, premature graying (20 years) | 92% (muscle) | Elevated (serum) | Normal respiratory chain enzymes. RRFs and succinate dehydrogenase reactive vessels | |
Yarham et al [ 8 ] | 51 | M | Bilateral sensorineural deafness, falls, speech disturbance, weight loss, diabetes mellitus, macroglossia with fatty infiltration, dysarthria, bilateral pes cavus, lipoma, low tendon reflexes, dysmetria, generalized brain atrophy | 39% (muscle) | Elevated (cerebrospinal fluid) | Dystrophic changes and lipid infiltrates, RRFs, COX-negative fibers, succinate dehydrogenase reactive vessels | Unaffected sister shows heteroplasmy levels of 6% in both urine and blood |
Liu et al [ 11 ] | 14 | F | Progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, nystagmus, basal ganglia calcification, brain atrophy, and stroke-like lesions | 93% (muscle), 67% (blood), 62% (fibroblasts) | Elevated (serum) | RRF, COX-negative fibers, succinate dehydrogenase reactive vessels | Mother of proband (phenotype: emaciation and short stature) and asymptomatic sister of proband have heteroplasmy levels of 46% and 50%, respectively |
Keilland et al [ 12 ] | 15 | F | Stat... |
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