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)

A 2-year-old girl with granulocytopenia developed fever followed by truncal ataxia and progressive neurologic regression. CT demonstrated symmetric low-density areas in the cerebral white matter. Sural nerve biopsy revealed axonal degeneration. Blood lactate levels were high, and serum levels of copper and ceruloplasmin and urinary excretion of copper were low. Cultured skin fibroblasts showed normal copper uptake. Treatment with oral copper administration normalized serum copper and ceruloplasmin levels, blood lactate levels, and granulocyte count. However, copper levels in the CSF were still low, and the patient showed no clinical improvement. We speculated that copper transport across the intestinal wall and across the blood-brain barrier was impaired.
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PMID:Non-Menkes-type copper deficiency with regression, lactic acidosis, and granulocytopenia. 186 16

A 77-year-old man presented with dizziness and ataxia after 7-day treatment of phenytoin 100 mg 3 times daily for prophylaxis of post-traumatic seizure. Thrombocytopenia and hematuria were found incipiently and supportive measures were employed. Owing to extremely slow metabolism of phenytoin in this patient, the period of exposure to phenytoin overdose was prolonged, resulting in delayed hypersensitivity syndrome. Neutropenia and fever developed and thus antibiotics and granulocyte-colony stimulating factor were administered. Although charcoal hemoperfusion is generally not applied in cases of phenytoin overdose, this method was successfully used to enhance the removal of phenytoin in our patient.
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PMID:Charcoal hemoperfusion in an elderly man with life-threatening adverse reactions due to poor metabolism of phenytoin. 1534 Jun 68

Spinocerebellar ataxia type 17 (SCA17) is an autosomal dominant inherited disorder characterized by degeneration of spinocerebellar tracts and selected brainstem neurons owing to the expansion of a CAG repeat of the human TATA-binding protein (hTBP) gene. To gain insight into the pathogenesis of this hTBP mutation, we generated transgenic mice with the mutant hTBP gene driven by the Purkinje specific protein (Pcp2/L7) gene promoter. Mice with the expanded hTBP allele developed ataxia within 2-5 months. Behavioral analysis of L7-hTBP transgenic mice showed reduced fall latency in a rotarod assay. Purkinje cell degeneration was identified by immunostaining of calbindin and IP3R1. Reactive gliosis and neuroinflammation occurred in the transgenic cerebellum, accompanied by up-regulation of GFAP and Iba1. The L7-hTBP transgenic mice were thus confirmed to recapitulate the SCA17 phenotype and were used as a disease model to explore the potential of granulocyte-colony stimulating factor in SCA17 treatment. Our results suggest that granulocyte-colony stimulating factor has a neuroprotective effect in these transgenic mice, ameliorating their neurological and behavioral deficits. These data indicate that the expression of the mutant hTBP in Purkinje cells is sufficient to produce cell degeneration and an ataxia phenotype, and constitutes a good model for better analysis of the neurodegeneration in SCA17.
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PMID:Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17. 2155 23