pelizaeus-merzbacher disease/hypoxia

The light microscopical morphology of perinatal neuroglia caused by hypoxia was examined in 60 cases, in 5 of them corresponding structures were investigated electron microscopically. The astroglia was studied additional by using the silver impregnation technique Bubenaite in 20 cases of the group.

Pelizaeus Merzbacher disease is an X-linked dysmyelinating disorder of the CNS, resulting from mutations in the proteolipid protein (PLP) gene. An animal model for this disorder, the myelin-deficient (MD) rat, carries a point mutation in the PLP gene and exhibits a phenotype similar to the fatal,

Psychosine (galactosylsphingosine) is enzymatically synthesized from UDP-galactose and sphingosine and degraded by galactosylceramidase. Galactosylceramidase is genetically deficient in Krabbe disease (globoid cell leukodystrophy) and psychosine accumulates in the brain of humans, dogs or mice

Aicardi-Goutières syndrome is a rare progressive encephalopathy characterized by acquired microcephaly, basal ganglia calcification, and chronic CSF lymphocytosis, raised levels of interferon alpha in CSF and plasma and chill-blain type lesions. A possible mechanism of injury is cytokine related

This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei

Genetically defined mitochondrial deficiencies that result in the loss of complex II function lead to a range of clinical conditions. An array of tumor syndromes caused by complex II-associated gene mutations, in both succinate dehydrogenase and associated accessory factor genes (SDHA, SDHB, SDHC,