ubiquinone and Chorea

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes, the most common maternally inherited mitochondrial disease, can present with a wide range of neurological manifestations including both central and peripheral nervous system involvement. The most frequent genetic mutation reported in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome is A3243G in MT-TL1 gene. Stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature constitute the known presentations in this syndrome. Among the abnormal involuntary movements in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome, myoclonus is the commonest. Other movement disorders, including chorea, are rarely reported in this disorder.. A 14-year-old South Asian boy from rural Bengal (India), born of a second degree consanguineous marriage, with normal birth and development history, presented with abnormal brief jerky movements involving his trunk and limbs, with recurrent falls for 10 months. We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation, in which the clinical picture was dominated by a host of involuntary abnormal movements including chorea-ballism, myoclonus, and oromandibular dystonia in a backdrop of cognitive decline, seizure, and stroke-like episode. A final diagnosis was established by muscle biopsy and genetic study. Haloperidol was administered to control the involuntary movements along with introduction of co-enzyme Q, besides symptomatic management for his focal seizures. Six months into follow-up his seizures and abnormal movements were controlled significantly with slight improvement of cognitive abilities.. The dominance of hyperkinetic movements in the clinical scenario and the finding of a point mutation A3251G in MT-TL1 gene make this a rare presentation.

Topics: Adolescent; Anti-Dyskinesia Agents; Chorea; DNA, Mitochondrial; Genetic Testing; Haloperidol; Humans; Male; MELAS Syndrome; Micronutrients; Point Mutation; Treatment Outcome; Ubiquinone

A 37-year-old man developed choreic movements of the limbs over a few months. His medical history included bilateral visual loss detected at the age of 9 and worsening at age 20. Visual field testing showed a central scotoma. Fundus examination showed atrophy of the optic disks and narrowing of vessels. The diagnosis of Leber hereditary optic neuropathy (LHON) was considered. There was no family history of visual loss or movement disorders. Blood lactate:pyruvate ratio was moderately elevated. Skeletal muscle biopsy was normal. Magnetic resonance imaging showed bilateral hypointense lesions on T1-weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2-weighted sequences. Nine LHON-associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.

Topics: Adult; Antioxidants; Chorea; Coenzymes; DNA Mutational Analysis; DNA, Mitochondrial; Functional Laterality; Humans; Magnetic Resonance Imaging; Male; Optic Atrophies, Hereditary; Subthalamic Nucleus; Treatment Outcome; Ubiquinone; Vitamins