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1.
Pediatr Res ; 63(4): 444-9, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18356755

ABSTRACT

The neuropathology of vanishing white matter (VWM) disease is characterized by a loss of white matter (WM). Although recent histopathological studies suggest a primary glial dysfunction, the purpose of this work was to assess the extent of axonal involvement in VWM using long-term follow-up proton MR spectroscopy. White and gray matter of nine children with genetically proven VWM and late infancy/early childhood onset were investigated with short-echo time, single-voxel proton MR spectroscopy over up to 8 years starting as early as less than 2 years after the onset of symptoms (5 patients). Total N-acetyl-aspartate (-51% from normal control), creatine and phosphocreatine (-47%), and myo-inositol (-49%) were reduced in WM at early disease stages. Choline-containing compounds were less severely decreased (-31%). Follow-up investigations revealed progressive reduction of all metabolites in WM. In gray matter, no distinct changes were detected at early stages. Later total N-acetyl-aspartate decreased slightly (-22%). Assuming the metabolite alterations to primarily reflect changes in cellular composition, the observed pattern indicates early axonal involvement or loss as well as relatively enhanced turnover of myelin. These early stages are followed by a complete cellular loss in cerebral WM.


Subject(s)
Aspartic Acid/analogs & derivatives , Brain Diseases/metabolism , Cerebrum/metabolism , Neurodegenerative Diseases/metabolism , Adolescent , Adult , Aspartic Acid/metabolism , Axons/metabolism , Axons/pathology , Brain Diseases/pathology , Cerebrum/pathology , Child , Child, Preschool , Creatine/metabolism , Female , Follow-Up Studies , Humans , Infant , Longitudinal Studies , Magnetic Resonance Imaging , Magnetic Resonance Spectroscopy , Male , Myelin Sheath/metabolism , Neurodegenerative Diseases/pathology , Phosphocreatine/metabolism
2.
Pediatr Neurol ; 28(1): 53-8, 2003 Jan.
Article in English | MEDLINE | ID: mdl-12657421

ABSTRACT

The mitochondrial encephalomyopathies are chronic progressive disorders affecting predominantly the neuromuscular system. Symptoms are induced by insufficient energy supply resulting from a deficiency of oxidative phosphorylation. We studied one male and four female patients with genetically proven mitochondrial encephalomyopathy. Their ages ranged from 7 to 19 years (two with Kearns-Sayre syndrome, one patient with neuronal muscle weakness, ataxia, and retinitis pigmentosa syndrome, and two patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), using a retrospective study method. We studied the effect of creatine supplementation (0.08 g-0.35 g/kg body weight/day; 9 months to 4 years, 10 months) and measured skeletal muscle power analysis (bicycle ergometer). After creatine supplementation all patients demonstrated an increase in their maximum performance (W) (+4% - +30%; mean: +12.1%). These results indicate an improved aerobic oxidative function of mitochondria after creatine administration in patients with mitochondrial encephalomyopathies. Continuous physical exercise was improved to a greater extent than instantaneous activity.


Subject(s)
Creatine/administration & dosage , Mitochondrial Encephalomyopathies/drug therapy , Adolescent , Adult , Child , Creatine/adverse effects , Exercise Test , Female , Humans , Lactic Acid/blood , MELAS Syndrome/diagnosis , MELAS Syndrome/drug therapy , Male , Mitochondrial Encephalomyopathies/diagnosis , Motor Activity/drug effects , Patient Satisfaction , Retrospective Studies , Running , Vital Capacity/drug effects
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