title: Chronic progressive external ophthalmoplegia. Clinical, electrophysiological, histochemical and ultrastructural studies of 14 cases.
abstract: Clinical, histochemical and ultrastructural findings concerning 14 cases with diagnosis of Chronic Progressive External Ophthalmoplegia are described. According to the clinical features the patients have been rated in two groups: the first including subjects with isolated ptosis or ptosis with external ophthalmoplegia and the second including subjects with a spreading of the muscular deficit and involvement of the neck and limbs. The most frequent histological and histochemical features are type I fibre atrophy, ragged-red fibres, DPNH-diaphorase reaction disorders and abnormal accumulation of lipids into the fibres. Electron microscopy reveal myofibrillar disorganization and clusters of polymorphous, abnormal mitochondria. In five cases mitochondria contain a variety of crystalline inclusions. Correlations between clinical data and histochemical and ultrastructural findings are discussed. Mitochondrial abnormalities are postulated to be a characteristic physiopathological pattern in CPEO.
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D001763:Blepharoptosis / Q000175:diagnosis / Q000473:pathology; D002908:Chronic Disease; D004576:Electromyography; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D050356:Lipid Metabolism; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009431:Neural Conduction; D009801:Oculomotor Muscles / Q000473:pathology; D009886:Ophthalmoplegia / Q000175:diagnosis* / Q000473:pathology