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)

Vitamin B-6 deficiency in the laying hen causes an immediate anorexia, loss of body weight, greatly reduced body fat stores and severe effects upon primary and secondary sex characteristics resulting in severely reduced hatchability culminating in complete cessation of egg production. While inanition may have been largely responsible for involution of the ovaries and oviducts in the vitamin B-6 deficient hens, regression of combs and wattles appears to be a more specific sign of vitamin B-6 deficiency. Serum cholesterol levels of vitamin B-6-deficient hens were lower than those of hens receiving an adequate diet. Egg cholesterol values remained relatively constant regardless of dietary B-6 levels or of alterations in serum cholesterol. No ataxia or mortality was observed in vitamin B-6-deficient hens or roosters. The effects of vitamin B-6 deficiency were almost completely reversed upon repletion of the hens with adequate dietary vitamin B-6.
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PMID:Influence of vitamin B-6 upon reproduction and upon plasma and egg cholesterol in chickens. 44 40

Transgenic mice that expressed antisense interleukin-3 (AS-IL-3) RNA were generated and exhibited either a B-cell lymphoproliferative syndrome or progressive neurologic dysfunction. Each syndrome occurred in the founder or progeny mice of three separate transgenic lines. The lymphoproliferative process involved the accumulation, within peripheral lymphoid organs, of B220+/slgM- pre-B cells that had immunoglobulin (Ig) genes predominantly in germline configuration and expressed lambda 5 and Rag-1 transcripts. Transgenic animals that developed neurologic dysfunction exhibited circling behavior that progressed to ataxia and terminal inanition. AS-IL-3 transcripts were detected in mature CD3+ T cells of asymptomatic transgenic animals, as well as in B220+/slgM- pre-B cells, and CD3+ T cells from animals with the lymphoproliferative syndrome. AS-IL-3 transcripts were also detected in the brains of both young asymptomatic transgenic animals and older transgenic animals with neurologic dysfunction. Decreased IL-3 production from ConA-stimulated splenocytes was observed in asymptomatic transgenic animals. These observations suggest that this cytokine may have important roles in B lymphopoiesis and neurologic function.
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PMID:Transgenic mice expressing antisense interleukin-3 RNA develop a B-cell lymphoproliferative syndrome or neurologic dysfunction. 791 83

We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.
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PMID:An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 985 54