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Investigators at Helsinki University, Division of Child Neurology have published new data on headache and migraine cell biology
2009 JUN 8 - (NewsRx.com) -- New investigation results, 'Recessive twinkle mutations cause severe epileptic encephalopathy,' are detailed in a study published in Brain. "The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy," scientists in Helsinki, Finland report. "The latter clinical phenotypes resemble those associated with recessive POLG1 mutations. We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. Our earlier reports focused on the spinocerebellar degeneration, but the 20-year follow-up of 23 patients has shown that refractory status epilepticus, migraine-like headaches and severe psychiatric symptoms are also pathognomonic for the disease. All adolescent patients have experienced phases of severe migraine, and seven patients had antipsychotic medication. Epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13 of them. Eight of these patients have died. Valproate treatment was initiated on two patients, but had to be discontinued because of a severe elevation of liver enzymes. The patients recovered, and we have not used valproate in infantile onset spinocerebellar ataxia since. The first status epilepticus manifested between 15 and 34 years of age in the homozygotes, and at 2 and 4 years in the compound heterozygotes. The epileptic statuses lasted from several days to weeks. Focal, stroke-like lesions were seen in magnetic resonance imaging, but in infantile onset spinocerebellar ataxia these lesions showed no predilection. They varied from resolving small cortical to large hemispheric oedematous lesions, which reached from cerebral cortex to basal ganglia and thalamus and caused permanent necrotic damage and brain atrophy. Brain atrophy with focal laminar cortical necrosis and hippocampal damage was confirmed on neuropathological examination," wrote T. Lönnqvist and colleagues, Helsinki University, Division of Child Neurology. The researchers concluded: "The objective of our study was to describe the development and progression of encephalopathy in infantile onset spinocerebellar ataxia syndrome, and compare the pathognomonic features with those in other mitochondrial encephalopathies." Lönnqvist and colleagues published their study in Brain (Recessive twinkle mutations cause severe epileptic encephalopathy. Brain, 2009;132(Pt 6):1553-62). For more information, contact T. Lönnqvist, Helsinki University Central Hospital, Division of Child Neurology, Helsinki, Finland. Publisher contact information for the journal Brain is: Oxford University Press, Great Clarendon St., Oxford OX2 6DP, England. Keywords: Finland, Helsinki, Headache and Migraine Cell Biology, Antipsychotic, Ataxia, Cell Biology, Child Neurology, DNA, Enzyme Research, Epilepsy, Epileptic Encephalopathy, Headache, Helicase, Machado-Joseph Disease, Mental Health, Migraine, Neurology, Ophthalmoplegia, Psychiatric, Psychiatry, Spinocerebellar Degeneration, Status Epilepticus, Urology. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2009, Pain & Central Nervous System Week via NewsRx.com.
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