Gabor Zsurka

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BACKGROUND Seventy Alzheimer's disease (AD) patients and 80 age- and sex-matched controls were analyzed for mitochondrial mutations T4336C and A3397G, reported to be associated with AD, and for mutations T4216C/G13708A characteristic for a normal human haplotype associated with increased frequency of occurrence of some hereditary diseases. The distribution(More)
This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G-->A (A467T) mutation was found in the linker-region of POLG1. Serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures(More)
Patients harboring A467T and W748S POLG1 mutations present with a broad variety of neurological phenotypes, including cerebellar ataxia, progressive external ophthalmoplegia (PEO), myoclonus, epilepsy, and peripheral neuropathy. With exception of ataxia and myoclonus, movement disorders are not typical features of POLG1 associated disorders. We report on(More)
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