Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 44-year-old patient died from amyotrophic lateral sclerosis (ALS) after nine years of heavy exposure to cadmium (Cd) in a nickel cadmium (Ni-Cd) battery factory. Two years after starting work he and co-workers had experienced pruritus, loss of smell, nasal congestion, nosebleeds, cough, shortness of breath, severe headaches, bone pain, and proteinuria. Upper back pain and muscle weakness progressed to flaccid paralysis. EMG findings were consistent with motor neuron disease. Cd impairs the blood-brain barrier, reduces levels of brain copper-zinc (Cu-Zn) superoxide dismutase (SOD), and enhances excitoxicity of glutamate via up-regulation of glutamate dehydrogenase and down-regulation of glutamate uptake in glial cells. High levels of methallothionein, a sign of exposure to heavy metals, have been found in brain tissue of deceased ALS patients. The effects of Cd on enzyme systems that mediate neurotoxicity and motor neuron disease suggest a cause effect relationship between Cd and ALS in this worker.
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PMID:Amyotrophic lateral sclerosis in a battery-factory worker exposed to cadmium. 1137 40

We utilized the well-validated University of Pennsylvania Smell Identification Test (UPSIT) to examine whether olfactory dysfunction occurs in ALS participants. After adjusting for relevant confounders in a multiple linear regression model, ALS participants scored significantly lower on the UPSIT compared with control participants, with an estimated mean difference of 2.31 points (P = 0.015). ALS participants also had twice the rate of olfactory dysfunction (microsmia or anosmia). This study suggests that olfactory dysfunction exists in ALS patients, which expands our understanding of the extramotor findings in ALS. Future investigations could determine whether there are correlations between olfactory dysfunction and specific ALS phenotypes.
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PMID:Olfactory dysfunction in amyotrophic lateral sclerosis. 3012 22