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)

The differential diagnosis of a progressive spastic paraparesis in the young adult is broad and includes rare neuro-metabolic diseases like cerebro-tendinous xanthomatosis, adrenomyeloneuropathy and hypovitaminosis. Their clinical presentation as well as the result of paraclinical examinations can be similar to those of multiple sclerosis. The early recognition of these diseases is important, because a dietary regimen may reduce the severity and progression of symptoms and signs and genetic counselling can be important. The relevant biochemical examinations for their detection are discussed. These neuro-metabolic diseases have to be differentiated from other neuro-degenerative diseases like amyotrophic lateral sclerosis and hereditary spastic paraplegias.
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PMID:[Differential diagnostic aspects of progressive spastic paraplegia in adults with emphasis on neurometabolic diseases]. 772 60

To assess the bone health of patients with amyotrophic lateral sclerosis (ALS), we evaluated the bone density and serum biochemical indices of bone metabolism in 11 ALS patients. The serum concentration of 25-hydroxyvitamin D (25-OHD) was significantly lower in patients (14.0 +/- 3.7 ng/ml) than in controls (25.2 +/- 4.0 ng/ml), at deficient levels (< 10 ng/ml) in 2, and at insufficient levels (10-20 ng/ml) in 9 patients. Serum levels of parathyroid hormone (PTH) and ionized calcium were elevated in 8 and 6 patients, respectively. Dietary intake of vitamin D was below the recommended level (100 IU) in 10 patients, and 10 patients were in a sunlight-deprived state. The metacarpal bone density (MBD) and the metacarpal index (MCI) of the second metacarpal bone were measured by computed X-ray densitometry. Z scores of the MBD and the MCI were negative in 7 and 6 patients, respectively. The serum concentration of 25-OHD was positively correlated with the Z score of the MBD (p < 0.05, r = 0.727) and negatively with the PTH level (p < 0.05, r = -0.410). The degree of dysfunction of hand grip also correlated with the Z score of the MBD (p < 0.05, r = 0.749). These data underscore the importance of hypovitaminosis D and compensatory hyperparathyroidism in the development of osteopenia in patients with ALS.
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PMID:Hypovitaminosis D and decreased bone mineral density in amyotrophic lateral sclerosis. 3134

This review focuses on the putative role of hyper-homocysteinemia in the pathogenesis of different diseases affecting the nervous system, including stroke, Alzheimer's disease, Parkinson's disease, epilepsy, multiple sclerosis and amyotrophic lateral sclerosis. However, a firm pathogenic role of homocysteine in these diseases has never been established. Lowering plasma homocysteine levels trough vitamin therapy failed to prevent vascular diseases. Conversely, normalization of hyper-homocysteinemia caused improvement in patients with cognitive impairment. B vitamin deficiency is the main determinant of homocysteine levels. However, it has been hypothesized that homocysteine might be a mere marker of vitamin deficiency or an indicator of disease rather than a risk factor. A more consistent use of thresholds to define deficiency is needed to recommend routine screening, monitoring and supplementation of B vitamins to ameliorate the prognosis of the above mentioned disorders. To date, data are insufficient to firmly establish which one of the hypotheses made is correct and the question concerning the real meaning of hyper-homocysteinemia in the pathology of the nervous system still remains an intriguing medical dilemma.
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PMID:Homocysteine, vitamin determinants and neurological diseases. 2003 53

This article reviews the recent literature regarding bone health as it relates to the patient living with neuromuscular disease (NMD). Studies defining the scope of bone-related disease in NMD are scant. The available evidence is discussed, focusing on abnormal calcium metabolism, increased fracture risk, and the prevalence of both scoliosis and hypovitaminosis D in Duchenne muscular dystrophy, amyotrophic lateral sclerosis, and spinal muscular atrophy. Future directions are discussed, including the urgent need for studies both to determine the nature and extent of poor bone health, and to evaluate the therapeutic effect of available osteoporosis treatments in patients with NMD.
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PMID:Bone health and associated metabolic complications in neuromuscular diseases. 2313 37

B vitamin deficiency is a leading cause of neurological impairment and disability throughout the world. Multiple B vitamin deficiencies often coexist, and thus an understanding of the complex relationships between the different biochemical pathways regulated in the brain by these vitamins may facilitate prompter diagnosis and improved treatment. Particular populations at risk for multiple B vitamin deficiencies include the elderly, people with alcoholism, patients with heart failure, patients with recent obesity surgery, and vegetarians/vegans. Recently, new clinical settings that predispose individuals to B vitamin deficiency have been highlighted. Moreover, other data indicate a possible pathogenetic role of subclinical chronic B vitamin deficiency in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. In light of these findings, this review examines the clinical manifestations of B vitamin deficiency and the effect of B vitamin deficiency on the adult nervous system. The interrelationships of multiple B vitamin deficiencies are emphasized, along with the clinical phenotypes related to B vitamin deficiencies. Recent advances in the clinical determinants and diagnostic clues of B vitamin deficiency, as well as the suggested therapies for B vitamin disorders, are described.
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PMID:Advances in clinical determinants and neurological manifestations of B vitamin deficiency in adults. 2703 75