The field of mitochondrial medicine is rapidly transitioning from preclinical observation to clinical application. Translation of promising data obtained in mouse models is not always straightforward, however. Building on their own work showing that a ketogenic diet induces mitochondrial biogenesis and delays the onset of disease in the Deletor mouse, Ahola et al administered modified Atkins di...

mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...

A 42-year-old woman presented with a history of intractable eye-closure-sensitive myoclonic and grand mal seizures since age 22, resulting in falls and fractures. She also had five episodes of status epilepticus. She denied visual phenomena, eyelid myoclonus, and absence seizures. She had normal cognitive function, but proximal muscle weakness of all extremities. Her EEG revealed eye-closure-in...

This paper considers the optimal ooset, feasible ooset, and optimal placement problems for a more general form of single-layer VLSI channel routing than has usually been considered in the past. Most prior works require that every net has exactly one terminal on each side of the channel. As long as only one side of the channel contains multiple terminals of the same net, we provide linear-time s...

OBJECTIVE To identify the cause of an adult-onset multisystemic disease with multiple deletions of mitochondrial DNA (mtDNA). DESIGN Case report. SETTING University hospitals. PATIENT A 65-year-old man with axonal sensorimotor peripheral neuropathy, ptosis, ophthalmoparesis, diabetes mellitus, exercise intolerance, steatohepatopathy, depression, parkinsonism, and gastrointestinal dysmotility. R...

A 40-year-old man with chronic hepatitis B complained of progressive weakness of the proximal muscles and edema of both legs. He had been receiving long-term clevudine (nucleoside analogue reverse transcriptase inhibitor, NRTI) therapy for his hepatitis. The serum creatine kinase level was increased on the laboratory tests. His electromyography showed a generalized myopathic process. The muscle...

The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora d...

Introduction: The Kearns-Sayre syndrome (KSS) belongs to the group of mitochondrial diseases. Cells that require more energy intake, such as muscle, nerve, retinal and cochlear, are most commonly affected. The established diagnostic criteria are: 1) the age of onset before 20 years old (100%), 2) progressive external ophthalmoplegia (100%), 3) pigmentary retinopathy (100%), and 4) at least one ...