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 family is reported in which three out of four siblings of a consanguineous healthy couple developed adult onset Amyotrophic Lateral Sclerosis (ALS). All patients showed a similar clinical course with regard to disease progression and absence of cognitive deterioration. Laboratory findings included modification of Spinal Evoked Potential (SEP) and normal value of thiamine and thiamine monophosphate in cerebrospinal fluid (CSF). These data suggest an autosomal recessive mode of inheritance of ASL in this family.
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PMID:Amyotrophic lateral sclerosis: a possible example of autosomal recessive inheritance. 171 Mar 88

The imitation and recognition ability of brain-damaged and normal subjects was tested for 30 pairs of semantically matched ASL signs and corresponding Amer-Ind gestures. Subjects were rated according to severity and site of lesion. They were 6 nonaphasic, right-hemisphere brain-damaged subjects, 12 aphasic subjects, and 12 non-brain-damaged geriatric subjects. Results indicated that the Amer-Ind gestures were significantly easier to imitate and to recognize than the matched ALS signs. The relationships between these gestural abilities and severity of aphasia, site of lesion, Amer-Ind transparency ratings, and subjects' performance on a standardized aphasia test are outlined. The theoretical implications that concern the neural systems which mediate spoken and limb gestures are discussed.
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PMID:Amer-Ind versus ASL: recognition and imitation in aphasic subjects. 242 49

Natural polyamines (putrescine, spermidine and spermine) are ubiquitous molecules known to regulate a number of physiological processes and suspected to play a role also in various pathological conditions. Changes in polyamine levels and in their biosynthetic enzymes have been described for some neurodegenerative diseases but the available data are incomplete and somewhat contradictory. We report here alterations of the key enzyme of the polyamine pathway, ornithine decarboxylase (ODC) catalytic activity and polyamine levels in different CNS areas from SOD1 G39A transgenic mice, an animal model for amyotrophic lateral sclerosis (ALS). ODC catalytic activity, was found significantly increased both in the cervical and lumbar spinal cord and, to a lesser extent in the brain stem of transgenic mice at a symptomatic stage of the disease (125-day-old mice), while no differences were present at a pre-symptomatic stage (55-day-old mice). In parallel with the increase of ODC activity putrescine levels were several times increased in both cervical and lumbar spinal cord and in the brain stem of 125-day-old SOD1 G39A mice. Higher order polyamines were not increased except for a significant increase of spermidine in the cervical spinal cord. The present data demonstrate considerable alterations of the ODC/polyamine system in a reliable animal model of ASL, consistent with their role in neurodegeneration and in particular in motor neuron diseases.
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PMID:Regional and temporal alterations of ODC/polyamine system during ALS-like neurodegenerative motor syndrome in G93A transgenic mice. 1629 Feb 66

MicroRNA (miRNA) has emerged as an important regulator of gene expression in neurodegenerative disease as amyotrophic lateral sclerosis (ALS). In the nervous system, dysregulation in miRNA-related pathways is subordinated to neuronal damage and cell death, which contributes to the expansion of neurodegenerative disorders, such as ALS. In the present research, we aimed to profile dysregulation of miRNAs in ALS blood and neuromuscular junction as well as healthy blood control by next-generation sequencing (NGS). The expression of three upregulated miRNAs, as miR-338-3p, miR-223-3p, and miR-326, in the ALS samples compared to healthy controls, has been validated by qRT-PCR in a cohort of 45 samples collected previously. Bioinformatics tools were used to perform ALS miRNAs target analysis and to predict novel miRNAs secondary structure. The analysis of the NGS data identified 696 and 49 novel miRNAs which were differentially expressed in ALS tissues. In particular, in neuromuscular junction the differential expression of miR-338-3p, which we previously found upregulated in different types of ASL tissues, miR-223-3p, and miR-326 was elevated compared to normal control. ALS miRNAs gene target were significantly involved in neuronal related pathway as BDFN1 and HIF-1genes. This study presents the direct experimental evidence that, overall, miR-338-3p is highly expressed in ALS tissues including neuromuscular junction characterizing ALS from normal tissues. Beside, our analysis identified, for the first time, novel miRNAs highly expressed in ALS tissues. In conclusion, the results indicate that miRNAs has an important role in the diagnosis and treatment of ALS.
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PMID:Wide-Ranging Analysis of MicroRNA Profiles in Sporadic Amyotrophic Lateral Sclerosis Using Next-Generation Sequencing. 3015 26