Archives of neurology · 2008
Amyotrophic lateral sclerosis with ragged-red fibers.
Клинический случайСтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАОбзорНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Hirano Michio, Angelini Corrado, Montagna Pasquale, Hays Arthur P, Tanji Kurenai, Mitsumoto Hiroshi, Gordon Paul H, Naini Ali B, DiMauro Salvatore, Rowland Lewis P
Аннотация
BACKGROUND: Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects.
OBJECTIVES: To describe a patient with typical ALS and the finding of ragged-red fibers in muscle biopsy specimens and to review the literature on respiratory chain defects in ALS and SMA.
DESIGN: Case report and review of the literature.
SETTING: Collaboration between tertiary care academic hospitals.
PATIENT: A 65-year-old man with typical ALS.
MAIN OUTCOME MEASURES: The patient had 10% ragged-red fibers and 3% cytochrome-c oxidase-negative fibers in muscle biopsy specimens but no biochemical defects of respiratory chain enzymes or alterations of mitochondrial DNA (mtDNA).
RESULTS: Amyotrophic lateral sclerosis with ragged-red fibers has been reported in 5 families and is associated with mtDNA mutations in some subjects. Spinal muscular atrophy without mutations in the survival motor neuron gene (SMN; OMIM 600354) has been associated with mtDNA depletion or with mutations in the cytochrome-c oxidase assembly gene (SCO2; OMIM 604377).
CONCLUSION: Respiratory chain defects can mimic ALS or SMA and should be considered in the differential diagnosis.
OBJECTIVES: To describe a patient with typical ALS and the finding of ragged-red fibers in muscle biopsy specimens and to review the literature on respiratory chain defects in ALS and SMA.
DESIGN: Case report and review of the literature.
SETTING: Collaboration between tertiary care academic hospitals.
PATIENT: A 65-year-old man with typical ALS.
MAIN OUTCOME MEASURES: The patient had 10% ragged-red fibers and 3% cytochrome-c oxidase-negative fibers in muscle biopsy specimens but no biochemical defects of respiratory chain enzymes or alterations of mitochondrial DNA (mtDNA).
RESULTS: Amyotrophic lateral sclerosis with ragged-red fibers has been reported in 5 families and is associated with mtDNA mutations in some subjects. Spinal muscular atrophy without mutations in the survival motor neuron gene (SMN; OMIM 600354) has been associated with mtDNA depletion or with mutations in the cytochrome-c oxidase assembly gene (SCO2; OMIM 604377).
CONCLUSION: Respiratory chain defects can mimic ALS or SMA and should be considered in the differential diagnosis.
Предметные рубрики MeSH
AgedAmyotrophic Lateral SclerosisBiopsyCarrier ProteinsCyclic AMP Response Element-Binding ProteinCytochrome-c Oxidase DeficiencyDNA Mutational AnalysisDNA, MitochondrialElectron Transport Complex IVGene DeletionHumansMaleMitochondrial ProteinsMolecular ChaperonesMuscle Fibers, Fast-TwitchMutationNerve Tissue ProteinsRNA-Binding ProteinsSMN Complex Proteins