EM as an important diagnostic tool in neuronal ceroid-lipofuscinosis (NCL, Batten's disease)
| Autor: | Josef Thurner, Wolfgang H. Muss, Rudolf Puttinger |
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| Rok vydání: | 1992 |
| Předmět: | |
| Zdroj: | Proceedings, annual meeting, Electron Microscopy Society of America. 50:628-629 |
| ISSN: | 2690-1315 0424-8201 |
| DOI: | 10.1017/s0424820100123544 |
| Popis: | Neuronal Ceroid-Lipofuscinoses (NCL) are a group of neurometabolic/neurodegenerative disorders characterized by an accumulation of metabolites (autofluorescent “1ipopigments-Ceroid-Lipofuscin”) in central and peripheral nerve system as well as in retina, skeletal muscle, fibroblasts, histiocytes and other body organs. Batten's Disease (syn:SPIELMEYER-VOGT Disease; iuvenile onset NCL) presents with an autosomal recessive inheritance (1). Immunochemical studies (2) suggest that subunit c of mitochondrial ATP-Synthase is stored in the late infantile, iuvenile and adult forms of NCL ; chromosome studies indicate Batten's Disease maps to human chromosome 16 (3); erythrocyte and platelet phospholipids and fatty acids have been reported to be decreased (4), also concentrations of phosphorylated dolichol are reported to be 10 to 20-fold higher in brain from NCL than age-matched controls (5). Intracel1ular/lysosomal storage products histologically are PAS-positive, extractable and, ultrastructurally, the inclusions/accumulation products display characteristic recti-and curvilinear profiles as well as fingerprint bodies (for histological / ultrastructural classification criteria cf. (6)). |
| Databáze: | OpenAIRE |
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