Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a mentally retarded 12-year-old girl with ataxia in whom diagnostic evaluation for short stature revealed isolated growth hormone (GH) deficiency and multiple central nervous system (CNS) lesions. Assessment of immunologic status, performed because of the persistence of recurrent respiratory tract infections, showed associated deficiencies of IgG2-IgG4 and specific antibody response; in addition, in vitro lymphocyte response to mitogens was low, in vitro production of interleukin-2 and of IgM was absent, and natural killer activity was decreased. The possibility that association of the CNS lesions, GH deficiency and immune defects could be due to alterations of the neuro-immuno-endocrine network secondary to a disturbance of neurotransmitters induced by precocious CNS damage of a viral or ischemic nature is discussed.
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PMID:Immunodeficiency, growth hormone deficiency and central nervous system involvement in a girl. 151 19

To elucidate the in vivo function of interleukin-2 (IL-2) we produced transgenic mice with either the human genomic IL-2 gene (hIL-2) or the murine metallothionein-I promoter-human IL-2 fusion gene (MThIL-2). Nine of 12 transgenic mice independently obtained showed motor ataxia (2 mice with hIL-2, and 7 mice with MThIL-2) due to the infiltration of lymphocytes into the cerebellar tissues (Katsuki et al. 1989). In addition to the ataxia shown by both groups of transgenic mice, other features were found with respect to each introduced DNA. The transgenic mice with hIL-2 suffered from alopecia. Lymphocytic infiltrates were found in the skin underlying the hairless regions as well as in the brains. On the other hand, the male transgenic mice with MThIL-2 had atrophic testes. In these male mice, sperm or cells of the later stages of spermatogenesis were depleted in the testes without any apparent signs of an immunological response. These findings suggest that the introduced human IL-2 genes may have the pleiotropic functions of inducing tissue-specific immunological responses in the brain and skin, and of having harmful effects on spermatogenesis.
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PMID:Anomalies in transgenic mice carrying the human interleukin-2 gene. 213 May 38

We reviewed the records and radiologic studies of eight patients who developed new focal neurologic abnormalities while receiving interleukin-2 (IL2)-based immunotherapy for malignancy or HIV infection. Initial confusion and delirium in the patients evolved into coma, ataxia, hemiparesis, seizures, and cortical syndromes including aphasia, apraxia, and cortical blindness. Imaging studies showed multiple white and gray matter lesions with a predilection for the occipital poles, centrum semiovale, and cerebellum. After cessation of IL2 treatment, seven patients improved to normal or near-normal neurologic function paralleled by resolution of the lesions on scans. One patient improved only minimally. Possible etiologies for the lesions include an IL2-induced cerebral vasculopathy, a direct toxic effect of IL2, or immunologically mediated damage.
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PMID:Multiple cerebral lesions complicating therapy with interleukin-2. 875 14