Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0238111 (Lennox-Gastaut syndrome)
 861 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Whether the cerebral or subcortical lesions are involved in the pathogenesis in infantile spasms (IS) remains to be determined. To investigate the functional lesions of the subcortical structures in IS, the brainstem expression of neurotransmitters, neuropeptides and calcium-binding proteins in IS autopsy cases of lissencephaly and of perinatal hypoxic ischemic encephalopathy (HIE/IS) was investigated. The IS patients consisted of four subjects each of lissencephaly and HIE. They suffered from both West and Lennox-Gastaut syndromes. The healthy and disease controls were composed of four subjects without neuromuscular disorders and six cases of HIE (HIE/C), neither of whom had the epileptic syndrome. In these subjects the expressions of tryptophan hydroxylase (TrH), tyrosine hydroxylase (TH), parvalbumin (PV), methionine-enkephalin (ME) and substance P (SP) were immunohistochemically determined in serial sections of the midbrain, pons and medulla oblongata. The immunoreactivity of neurons and neuronal processes for TH was altered in the mesencephalic periaqueductal gray matter, locus ceruleus, and dorsal vagal nucleus in the patients. The HIE/IS cases showed reduced TrH-immunoreactivity in the medullary raphe nuclei. The brainstem auditory tract was poorly discernible on anti-PV immunostaining in the IS patients. The immunoreactivity for ME in the spinal trigeminal nucleus was severely affected in the IS patients, while that for SP was comparatively well preserved. It is suggested that the presence of common brainstem lesions in IS is irrespective of etiologies. It is intriguing that some of the changes seemed to be interrelated with the neurophysiological abnormalities being reported in IS patients.
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PMID:Immunohistochemical analysis of brainstem lesions in infantile spasms. 1121 Oct 54

Both West syndrome (WS) and Lennox-Gastaut syndrome (LGS) are associated with various developmental disorders and it has been discussed whether the cerebral cortex or subcortical structures are important in the pathogenesis of both epileptic syndromes. Here we briefly review the literature on the neuropathological findings in WS and LGS, and present our data on immunohistochemical analysis of the brainstem and limbic lesions in autopsy cases of lissencephaly and sequels of hypoxic ischemic encephalopathy (HIE) caused by perinatal asphyxia manifested as both WS and LGS (WS/LGS). Nowadays, the neuroradiological examinations and surgical pathology in WS cases demonstrate dysplastic cerebral lesions more frequently than previously expected. On the other hand, we have delineated the common brainstem lesions such as small size of the tegmentum and spongy state and/or gliosis in the central tegmental tract in a number of WS autopsy cases of various etiologies. Recently, we reported the reduced expression of tyrosine hydroxylase, methionine enkephalin and parvalbumin in the brainstem in autopsy cases of lissencephaly and sequels of HIE manifested as WS/LGS, regardless of the cerebral changes. In the same subjects, we examined the expression of glutamate transporters and calcium-binding proteins in the limbic system by immunohistochemistry. These represent markers of glutamate neurotoxicity and the GABAergic inhibitory neuron system, respectively. The altered expressions of glial glutamate transporters and calcium-binding proteins in the limbic system seemed to reflect temporal lobe sclerosis, irrespective of the past history of WS, and there were no differences in the limbic involvement between the cases manifested as WS/LGS and disease controls of sequels of HIE not manifested as WS/LGS. It is more likely that the brainstem lesions contribute to the pathogenesis of WS and/or LGS more than the heterogeneous limbic lesions in these cases.
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PMID:Neuropathology of the limbic system and brainstem in West syndrome. 1170 Dec 47