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)

Visual, brainstem auditory and somatosensory evoked potentials to medial nerve stimulation were recorded in 27 patients affected by amyotrophic lateral sclerosis. VEP N75, P100, N140, N75-P100 latencies and P100 amplitude, BAEP I-III, III-V and I-V interpeak-latencies were within normal limits in all ALS patients. Somatosensory evoked potentials were abnormally delayed in 8 patients: in 3 arms because of a delayed N9-N13 latency, in 9 arms because of a delayed N13-N19 latency.
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PMID:Multimodality evoked potentials in amyotrophic lateral sclerosis. 274 65

We studied patients with Alzheimer disease, Parkinson disease, and amyotrophic lateral sclerosis (ALS) with a pattern reversal (checkerboard light diode) visual evoked potential (VEP) paradigm to observe the involvement of the visual system in these primary neurodegenerative diseases. All patients were in the mild or moderate stage of the disease. In Alzheimer disease there was a significant increase of the latency of the P55, N65, P100, and N130 components, as well as an increase of the P55-P100 interpeak latency, compared with matched normals. These alterations indicate dysfunction of both the retinocalcarine pathway and the cortex. Patients with Parkinson disease revealed a significant delay of the N130 component only. Patients with ALS had normal latency values of all VEP components. The P100-N130 amplitude was diminished in all these disease groups compared with age-matched controls.
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PMID:Prolonged latencies of pattern reversal visual evoked early potentials in Alzheimer disease. 788 55

Mutations of Cu,Zn superoxide dismutase cause an autosomal dominant form of familial amyotrophic lateral sclerosis. An animal model of the disease has been produced by expressing mutant human SOD1 in transgenic mice (G93A). In order to quantify the dysfunction of the motor unit in transgenic mice, electromyographic recordings were performed during the course of the disease. The first alterations in neuromuscular function appeared between P63 and P90. The deficits became even more striking after P100; compound muscle action potentials in the hindlimb decreased by 80% of initial value. Spontaneous fibrillation potentials were measured in more than 50% of transgenic mice. The number of motor units in the gastrocnemius muscle was progressively reduced over time, down to 18% of the control value at P130. Moreover, distal motor latencies increased after P120. These data suggest that the initial dysfunctions of motor unit are related to a severe motor axonal degeneration, which is followed at later periods by myelin alteration.
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PMID:Progressive motor neuron impairment in an animal model of familial amyotrophic lateral sclerosis. 899 82

A 44-year-old man was admitted to our hospital because of a five year history of chronic progressive gait disturbance. Neurological examination revealed mild weakness and atrophy of the upper extremities, but severe of the lower ones, and without sphincter disturbance or apparent sensory impairment. Hyperreflexia and positive pathological reflexes of the lower extremities were apparent. EMG showed a reinnervation pattern and decreased number of motor units in the extremities, suggesting ALS. However, multiple plaques on the head and spinal MRI, a prolonged central conduction time of MEP and SEP, a delayed P100 latency of VEP, and a increased IgG index in the CSF indicated primary progressive type multiple sclerosis. After receiving steroid pulse therapy, the weakness of the lower extremities showed slight improvement. Diffuse inflammation in the spinal cord involving not only the pyramidal tract but also the anterior horn cells/intramedullary ventral roots explained the ALS-like clinical picture.
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PMID:[Primary progressive multiple sclerosis as a differential diagnosis of ALS: a case report]. 1578 6

In amyotrophic lateral sclerosis caused by mutations in Cu/Zn-superoxide dismutase (SOD1), altered solubility and aggregation of the mutant protein implicates failure of pathways for detecting and catabolizing misfolded proteins. Our previous studies demonstrated early reduction of proteasome-mediated proteolytic activity in lumbar spinal cord of SOD1(G93A) transgenic mice, tissue particularly vulnerable to disease. The purpose of this study was to identify any underlying abnormalities in proteasomal structure. In lumbar spinal cord of pre-symptomatic mice [postnatal day 45 (P45) and P75], normal levels of structural 20S alpha subunits were incorporated into 20S/26S proteasomes; however, proteasomal complexes separated by native gel electrophoresis showed decreased immunoreactivity with antibodies to beta3, a structural subunit of the 20S proteasome core, and beta5, the subunit with chymotrypsin-like activity. This occurred prior to increase in beta5i immunoproteasomal subunit. mRNA levels were maintained and no association of mutant SOD1 with proteasomes was identified, implicating post-transcriptional mechanisms. mRNAs also were maintained in laser captured motor neurons at a later stage of disease (P100) in which multiple 20S proteins are reduced relative to the surrounding neuropil. Increase in detergent-insoluble, ubiquitinated proteins at P75 provided further evidence of stress on mechanisms of protein quality control in multiple cell types prior to significant motor neuron death.
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PMID:Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis. 1831 58