ABSTRACT
Objective To report the first family of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL)in China,and to explore its clinicopathological characteristics.Methods The clinical,imaging and pathological findings of the two patients were studied, and the sequence of the exons from 2 to 6 on Notch 3 in the chromosome 19 was detected.Results Two siblings were born from consanguineous parents.The ages at onset were 25 and 20 years old,respectively. Clinically,both of the patients were characterized by alopecia,acute lumbago,progressive intellectual deterioration,ataxia,pseudobulbar palsy and pyramidal tract signs.MRI demonstrated diffuse leucoencephalopathy and multiple subcortical infarcts on both hemisphere.The sural nerve biopsy on the elder sister demonstrated concentric thickening of vascular wall,narrowing of the lumen and mild fibrous proliferation of the intima.There were no amyloid,PAS granular deposition and uhrastructural granular osmiophilic material on the vascular wall.No mutation of exons from 2 to 6 on Notch 3 in the chromosome 19 was found by direct sequence.Conclusion The clinicopathological findings of the two patients fulfill the diagnostic criteria based on Fukutake.
ABSTRACT
Objective:To explore the pathology and pathogenesis of cerebellar injuries induced by methylmercury chloride(MMC) toxication in rats. Methods:Rats were given MMC(4 mg·kg-1·d-1) consecutively and sacrificed on days 11, 15, 18 and 21. Pathological changes of the cerebellum were observed by histo-immunopathology; in situ staining was performed for DNA strand breaks in cerebellar granule cells by TUNEL technique; and the ultrastructures were observed by electron microscope. Results:On day 18, sparse TUNEL positive granular cells were observed mainly in deep lamina adjacent to the white matter. On day 21, apoptotic cells markedly increased and granule cells decreased with well-preserved Purkinje cells. Immunostaining with MRF-1 and GFAP demonstrated severe microgliosis and astrocytosis. On day 18, electron microscopy demonstrated that the nuclei of MMC-treated animals were shrunken and displayed increased electron density, and some homogeneously dense nuclear chromatin with tear-drop features, which were compatible with the apoptotic changes. Conclusion:These results indicate that the pathological changes in the cerebellum in this subacute MMC intoxication model resemble human cases, and the degeneration of granule cells is apoptosis.
ABSTRACT
Objective:To explore the pathology and pathogenesis of cerebellar injuries induced by methylmercury chloride(MMC) toxication in rats. Methods:Rats were given MMC(4 mg·kg-1·d-1) consecutively and sacrificed on days 11, 15, 18 and 21. Pathological changes of the cerebellum were observed by histo-immunopathology; in situ staining was performed for DNA strand breaks in cerebellar granule cells by TUNEL technique; and the ultrastructures were observed by electron microscope. Results:On day 18, sparse TUNEL positive granular cells were observed mainly in deep lamina adjacent to the white matter. On day 21, apoptotic cells markedly increased and granule cells decreased with well-preserved Purkinje cells. Immunostaining with MRF-1 and GFAP demonstrated severe microgliosis and astrocytosis. On day 18, electron microscopy demonstrated that the nuclei of MMC-treated animals were shrunken and displayed increased electron density, and some homogeneously dense nuclear chromatin with tear-drop features, which were compatible with the apoptotic changes. Conclusion:These results indicate that the pathological changes in the cerebellum in this subacute MMC intoxication model resemble human cases, and the degeneration of granule cells is apoptosis.