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

Nervous system tissues from a number of patients with idiopathic neurological disorders were examined for biochemical evidence of RNA tumor virus infection. RNase-sensitive DNA polymerase activity was found in a cytoplasmic particulate fraction from two patients with Guamanian amyotrophic lateral sclerosis (ALS) but not in brains from two normal U.S. individuals. The buoyant density of the enzyme-containing fraction was 1.16-1.18 g/ml and could be converted to a denser region of the gradient (1.24 g/ml) by treatment with the nonionic surfactant, Sterox. The cation and detergent requirements for the endogenous RNase-sensitive DNA polymerase reaction were determined. The early (5 min) endogenous reverse transcriptase product was analyzed by cesium sulfate gradient centrifugation. RNase- and heat-sensitive RNA-DNA hybrids were detected in the product analysis of two ALS, one Parkinsonism-dementia (PD) brain, and two brains from asymptomatic Chamorros but not in brains from normal U.S. individuals and a number of patients with neuro-psychiatric disorders. The DNA product was a 4.5S heteropolymer that hybridized more extensively to RNA extracted from the enzyme-containing pellet from PD brain as compared to a similar fraction from normal U.S. brain. The DNA product appeared to be unrelated to Rausvher or visna virus 70S RNA as determined by RNA-[-3H]DNA hybridization.
 ...
PMID:RNA-instructed DNA polymerase activity in a cytoplasmic particulate fraction in brains from Guamanian patients. 4 90

The ultrastructural features of Bunina type inclusions in the anterior horn cells of a patient dying of amyotrophic lateral sclerosis with dementia appear unique. The Bunina-type inclusions are electron dense aggregates containing, and surrounded by organelle-like membranes. These inclusions appear to be a special type of autophagic vacuole, possibly arising from altered mitochondria.
 ...
PMID:Anterior horn cell degeneration and Bunina-type inclusions associated with dementia. 19 71

To test the hypothesis that host resistance factors may be abnormal in Guamanians in whom amyotrophic lateral sclerosis and Parkinsonism-dementia develop, cellular immunity was evaluated in both diseases and compared to that of Guamanians with other nervous-system diseases, normal adult Guamanians and non-Guamanians with amyotrophic lateral sclerosis and Parkinsonism. Diminished responses to skin-test antigens, lymphopenia, diminished per cent and total T cells and, less frequently, decreased mitogen responses were seen in Guamanian patients with amytorophic lateral sclerosis and Parkinsonism-dementia but not in the other patient or normal groups. Guamanian patients with amyotrophic lateral sclerosis and diminished cellular immunity had an increased frequency of HLA-Bw35 (P less than 0.005) and shorter mean duration of disease (P less than 0.05) than those with normal cellular immunity. In Parkinsonism dementia diminished cellular immunity was less strongly associated with HLA-BW35 (P less than 0.05) and was not associated with differences in duration of disease. Normal Guamanians and those with other nervous-system diseases showed no association of diminished cellular immunity with HLA-Bw35. The association appeared disease-related, with onset concomitant with the neurologic expression of Guamanian amyotrophic lateral sclerosis and Parkinsonism-dementia.
 ...
PMID:Cellular immunity in Guamanians with amyotrophic lateral sclerosis and Parkinsonism-dementia. 30 83

Two newly identified foci of usually rare disease occurring in high incidence in isolated primitive populations of West New Guinea are discussed as examples of medical problems that demand immediate intensive investigation because the unique naturally occurring experiments they represent are soon likely to be altered. These are: (1) amyotrophic lateral sclerosis, Parkinsonism, and dementia syndromes in a small population of Auyu and Jakai peoples in the Lowlands, and (2) an epidemic of burns from cysticercosis epilepsy from newly introduced Taenia solium in pigs in the Ekari people of the Wissel Lakes in the Highlands. A third new example is a focus of male pseudohermaphroditism among the Simbari Anga in the Highlands of Papua New Guinea. These are presented along with a series of eleven further examples of the kind of problems that require urgent opportunistic observation because of the extreme changes that investigation and therapeutic and preventive efforts themselves, as well as the inevitable effects of acculturation, will evoke from the moment an investigator or other outsider from a technologically advanced culture enters the previously isolated community.
 ...
PMID:Urgent opportunistic observations: the study of changing, transient and disappearing phenomena of medical interest in disrupted primitive human communities. 41 3

Studies of the endocrinologic control of carbohydrate metabolism were conducted in Guamanians with parkinsonism-dementia (PD) or amyotrophic lateral sclerosis (ALS) and in Guamanian control patients who had various other neuromuscular disorders. Intravenously infused arginine tended to produce a more prolonged elevation in serum glucose levels in PD and ALS patients than in control subjects. On the other hand, the serum insulin response to arginine was significantly less in both PD and ALS patients than in controls. Arginine stimulated the release of growth hormone to a similar degree in all three patient groups. These observations support and extend previous reports of endocrinologic abnormalities in parkinsonism and ALS and might suggest that a defect in pancreatic islet cell function attends these disorders.
 ...
PMID:Endocrinologic regulation of carbohydrate metabolism. Amyotrophic lateral sclerosis and Parkinsonism-dementia on Guam. 42 65

In a neuropathological study of the brains of 69 members of the Guamanian Chamorro population without known evidence of dementia, parkinsonism or amyotrophic lateral sclerosis, the incidence and severity of neurofibrillary degeneration was determined in relation to age at death. It was found that neurofibrillary degeneration is present at an earlier age than has been reported for a comparable population in Japan, and much earlier than reported for two similarly comparable English populations. Our data suggests that neurofibrillary degeneration is the common denominator of the Guam neurological syndromes of parkinsonian dementia, amyotrophic lateral sclerosis and dementia without parkinsonism. This conclusion would imply that the aetiological factor of neurofibrillary degeneration is more widely dispersed in the population than suggested by the cases of parkinsonian dementia and amyotrophic lateral sclerosis alone. Both sexes were equally affected while clinical parkinsonian dementia is three times more frequent among males. The sample data suggests a positive association with the amyotrophic lateral sclerosis-parkinsonian dementia rate in village of birth and residence, and also with family history; the results in the small subsamples are not significant. Senile plaques were found in few control cases in this study, just as there has been a relative absence of senile plaques in cases of parkinsonian dementia. In a small group of Caucasians who had spent many of their adult years on Guam, the frequency of neurofibrillary degeneration in relationship to age was comparable to that in the English populations.
 ...
PMID:Neurofibrillary degeneration on Guam: frequency in Chamorros and non Chamorros with no known neurological disease. 42 33

This investigation was conducted to clarify the epidemiology of ALS disease in Sardinia. During the years 1965-1974, the average annual incidence was found to be 0.64/100,000 inhabitants. On prevalence day, October 24th, 1974, the prevalence rate was 1.56/100,000 inhabitants. A significant male predominance was found, the average annual incidence rates for men and women being 0.88 and 0.40, respectively. The peak in both sexes was reached between 60 and 69 years. ALS distribution in the study area was uniform but its occurrence was significantly higher among agricultural workers (5.28/100,000). ALS started on average at 56.58 years and its duration was 2.5 years, being significantly longer in patients under 40-years-old. The distribution of the various clinical forms was: 66 per cent conventional forms, 20 percent bulbar and 14 per cent pseudo-polyneuritic. In the bulbar type, a female predominance was found. About 96 percent of cases were sporadic and 4 per cent familial. Familial cases presented no difference from sporadic cases. Trauma was present in 10.5 percent of the cases and gastrointestinal disfunction in 13 per cent. This probably reflects some relationship between trauma and ALS, and between malnutrition and ALS. No combination of ALS, dementia and parkinsonism was observed. Dementia was associated with ALS in four cases and Parkinson's disease in one case, separately. The combination of other disease states with ALS in the present study may be simple coincidence.
 ...
PMID:Studies on epidemiological, clinical, and etiological aspects of ALS disease in Sardinia, Southern Italy. 84 75

Amyotrophic lateral sclerosis and Parkinsonism-dementia are unusually prevalent on Guam. Carbohydrate metabolism was studied in 110 patients with evidence diagnostic of or suspecious for these diseases. The combined incidence of known diabetes in 29 per cent of them plus a high percentage of glucose tolerance tests interpreted as abnormal, even when most age-related criteria were considered, was considerably higher than the incidence of abnormal carbohydrate metabolism reported elsewhere in the general population of the United States, the tropical Pacific area, or in recent surveys on Guam itself. The diabetes was generally mild in nature and noteworthy for a lack of retinopathy and other complications. Hypertension, hypercholesterolemia, and hyperuricemia, although highly prevalent, were not consistently associated with abnormal glucose metabolism. Similarly, no consistent association was demonstrated with such factors as age, muscle atrophy, or physical activity.
 ...
PMID:Abnormal carbohydrate metabolism in amyotrophic lateral sclerosis and Parkinsonism-dementia on Guam. 99 26

An overview of the epidemiologic studies of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia (PD) from 1945 through 1972 is presented. During this period 350 cases of ALS were documented. PD, which is apparently unique to the native Chamorro population, was not recognized during the early years of the study. A total of 213 PD patients have now been seen. The rates of both diseases have declined by approximately 50 per cent since 1965. In the early years incidence per 100,000 for ALS males approached 60; for females it was about 40. For PD males it was about 50; for females it was close to 20. The declines in both diseases have occurred in both sexes and at all age groups and no cohort phenomenon was observed. Marked geographic differences in the distribution of the diseases were observed with southern villages having the highest rates and western villages having the lowest rates; the remainder of the island was intermediate. Recent declines have been most marked in the southern high-rate villages. Chamorros living on the island of Rota have rates similar to those on Guam; those on Saipan have lower rates. A possible excess of ALS among Filipino residents ofGuam was noted; ALS has not been seen among other ethnic groups. Geographic mapping even in high incidence areas did not reveal true clusters or foci. Extensive case-control studies did not reveal any patterns of prior illness, life-style, or exposures distinguishing patients. A tendency for patients to be of somewhat lower socioeconomic level, have less education, eat more homegrown foods and raw meats, and more contact with animals was found. No Mendelian genetic patterns were observed; males were affected more frequently than female for both diseases. Cases did not occur before age 20, reached maximum frequency between ages 55 and 65 and there-after declined. Environmental factors associated with some aspects of the traditional way of life seem to be causally involved, but, since most aspects of the traditional life have changed in the past 50 years, the specific factors remain elusive.
 ...
PMID:Amyotrophic lateral sclerosis and parkinsonism-dementia on Guam, 1945-1972. I. Descriptive epidemiology. 112 59

The extraordinarily high rate of amyotrophic lateral sclerosis (ALS) and parkinsonism-dementia (PD) in the Chamorro linguistic group on Guam suggested a genetic etiology for these diseases. Results of three studies are described. Two involved comparisons of the rates of disease in relatives and spouses of index patients and controls. In the third we examined offspring of doubly affected parents, 10 spouse pairs with ALS, 3 spouse pairs with PD and 13 spouse pairs in which 1 spouse had ALS and the other PD. Within the limitations of numbers and age of offspring, we found a tendency among siblings and offspring of ALS cases to have a higher risk than control relatives. Numbers were small and in no instance were significant differences encountered. Spouses of patients had at least as high risk of developing ALS or PD as any of the groups of blood relatives. A slightly higher age-specific rate of ALS and PD occurred in the offspring of doubly affected parents. The only group large enough for present analysis are 60 offspring of doubly affected ALS parents over the age of 20. Thus far only 3 have developed ALS. Within our entire patient population of 350 ALS cases and 219 PD cases there were 12 instances in which one parent of the patient was not Chamorro. In addition there is a consistent two- to threefold excess of affected males which could not be accounted for by competitive risks of death from other causes among females. While a familial tendency does exist these findings and observations are not compatible with any simple Mendelian form of inheritance. It is possible that genetic influences affect the occurrence of these diseases but our studies suggest that environmental factors play at least as important a role.
 ...
PMID:Amyotrophic lateral sclerosis and parkinsonism-dementia on Guam, 1945-1972. II. Familial and genetic studies. 112 60


1 2 3 4 5 6 7 8 9 10 Next >>