Pelizaeus-Merzbacher disease
| Autor: | H. R. Weenink, G.W. Bruyn, W. J. A. van Wolferen, G. T. A. M. Bots, J.L.J.M. Teepen |
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| Rok vydání: | 1985 |
| Předmět: |
Adult
Central Nervous System Male Microcephaly Pathology medicine.medical_specialty Adolescent Pathology and Forensic Medicine White matter Cellular and Molecular Neuroscience Mesencephalon Cerebellum Pons Lysosomal storage disease Humans Medicine Dementia Denervation Medulla Oblongata business.industry Pelizaeus–Merzbacher disease Diffuse Cerebral Sclerosis of Schilder Aplasia medicine.disease Muscle atrophy Pedigree Microscopy Electron medicine.anatomical_structure Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Acta Neuropathologica. 67:177-189 |
| ISSN: | 1432-0533 0001-6322 |
| DOI: | 10.1007/bf00687799 |
| Popis: | The clinical and neuropathological findings are reported of two sibs with adult type PMD. Clinical features deviating from the usual pattern included: no psychosis, no measurable dementia, no dwarfism, no microcephaly, no (marked) involuntary movements, but conspicuous generalised muscle atrophy and denervation, impariment of vital and gnostic sensation, thoracolumbar vertebral anomalies, and aplasia of os coccygis. Neuropathological findings were as usual, with additional unusual features: pinhead-size areas of acute myelin-abbau products, involvement of grey in addition to white matter, and, upon ultrastructure, the new finding of intra-oligodendroglial fingerprint bodies, both in neuronal satellite and in white matter oligoglia, but not in astrocytes, ganglion cells, or pericytes. This excludes the origin of the stored material in the lysosomes as to derive exclusively from demyelination and would possibly imply PMD to be an oligodendroglial lysosomal storage disease. |
| Databáze: | OpenAIRE |
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