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 incidence, prevalence and regional distributions of sporadic motor neuron disease (MND) from 1980 through 1989 were evaluated in collaboration with multiple neurological institutes in Hokkaido island. Patients with sporadic MND were collected from three sources: 1) neurologist practicing in Hokkaido island, 2) sending inquiries to 620 major hospitals, 3) notification file of MND provided by Japanese Ministry of Welfare and Health. Three hundred and eighty-nine patients with sporadic MND were ascertained for this study. Of 389 patients, 238 patients were men and 151 patients were women, and the ratio of men to women was 1.6:1. The mean age of onset was 58.2 +/- 10.3 years old, 57.7 +/- 10.4 for men and 58.9 +/- 10.0 for women. Their clinical presentations were 303 patients with ALS, 52 patients were PBP and 34 patients were SPMA. The crude incidence rate for both sexes combined for 1980 through 1989 was estimated as 0.69 per 100,000 person-year. The age- and sex-adjusted incidence for men was 0.86 per 100,000 person-year (95% CI, 0.75 to 0.97) and that is higher than 0.53 per 100,000 person-year (95% CI, 0.45 to 0.61) for women. The average, crude prevalence rate from 1985 through 1989 was estimated as 2.25 per 100,000 person-year. There are no overall trends of changing the pattern in incidence and prevalence of MND in Hokkaido island, however the geographic distributions of the incidence of MND according to towns and cities disclosed the presence of some relative clustering areas.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Epidemiological study of motor neuron disease in Hokkaido island--its incidence, prevalence and regional distributions--ALS Study Group]. 141 50

ALS is the most common of the various MNDs, which also include the clinical entities of PBP, PMA, and PLS. Mean age of onset of ALS is 57 years, and there is a sex predilection for men in a ratio of 1.5:1. Area of first symptom is in the lower extremity is 36 per cent of cases, in the upper extremity in 32 per cent, and 25 per cent of patients have a bulbar onset. Motor cranial nerves in the lower brain stem from cranial nerve nuclei or corticobulbar tract degeneration are affected. This results in symptoms of speech and swallowing difficulty and emotional lability in up to 60 per cent of cases. One hundred per cent of cases have motor weakness, over 90 per cent have muscle atrophy and fasciculations, and 47 per cent have spasticity. There seems to be a pattern of progression of ALS signs and symptoms based on area of onset with LLE involvement tending to follow RLE weakness, LUE weakness following RUE onset, and RUE involvement following next in patients whose onset is bulbar. Significant numbers of ALS patients had sparing of involvement of parts of the body for follow-up times approaching 3 years. Although the majority of patients experience a deterioration that is significantly linear, seven of 28 patients or 25 per cent achieved a plateau lasting a minimum of 9 months. Survival in our series was 4.08 years for all forms of MND.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Amyotrophic lateral sclerosis. Its natural history. 356 82

We present here an assumption that hepatitis B virus (HBV) is involved in the pathogenesis of motor neuron disease (MND) in part, because of very high incidence of HBV antibody in patients with MND. In this study HBV antibodies were determined in 34 patients with MND (15 with ALS, 7 with SPMA, 8 with PBP and 4 with PBP+SPMA), and it was revealed that hepatitis B surface antigen (enzyme immunoassay: EIA) was negative in all the patients, whereas hepatitis B surface antibody (HBs-Ab) (EIA) was positive in 25 patients (73.5%) (9 with ALS, 6 with SPMA, 7 with PBP and 3 with PBP+SPMA). In contrast, HBs-Ab was positive only in 2 out of 28 patients with brain infarction (7.1%), and in 1 out of 16 patients with spinocerebellar degeneration (6.3%), both of which were used as control. Of 22 patients with indefinite complaints, none was positive for HBs-Ab. Thus, the number of HBs-Ab positive individuals was significantly (P < 0.001) greater in patients with MND than that in the patients having other disorders of central nervous system. From the above result, we conclude that MND may be partially ascribed to HBV.
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PMID:[Significance of hepatitis B virus antibody in motor neuron disease]. 761 57

Lanthanides can contribute a large anomalous component to X-ray scattering when present and ordered in a target crystal. This large anomalous signal is a useful source of phase information in X-ray crystallographic studies of biological macromolecules. Thiol-reactive lanthanide chelates were tested as a means of incorporation of lanthanides into protein crystals. Two compounds, each capable of being loaded with a lanthanide of choice, were synthesized: diethylenetriaminepentaacetic 3-(2-pyridyldithio)propionyl hydrazide (DTPA-PDPH) and 1,4,7,10-tetraazacyclododecane-N,N',N",N"'-tetraacetic 3-(2-pyridyldithio)propionyl hydrazide (DOTA-PDPH). A cysteine mutant of the 34 kDa phosphate-binding protein (PBP-A197C) from Escherichia coli was used as a test case. PBP-A197C was labeled with DTPA-PDPH loaded with dysprosium. Characteristics of DTPA-PDPH enabled spectroscopic monitoring of the labeling reaction. Complete labeling of PBP-A197C was confirmed by mass spectrometry and SDS-PAGE analysis. Labeled PBP-A197C (PBP-A197C-DTPA-Dy) crystallized identically to unlabeled protein. X-ray diffraction data were collected from PBP-A197C-DTPA-Dy crystals in-house with a Cu Kalpha rotating-anode source and with a tuneable synchrotron source (ALS 5.0.2). Synchrotron data were collected at energies corresponding to the Dy L(III) edge f" peak and a high-energy remote. Each data set was treated as an independent SAD experiment. A large anomalous signal was present in the data collected in-house and at the synchrotron. The Dy site was easily located in anomalous difference Patterson maps calculated from each of the data sets. In each case, SAD phasing resulted in high-quality electron-density maps, as evidenced by the success of automated model building. The generality of the method was analyzed with several other test proteins. Labeling of some of these proteins with thiol-reactive lanthanide chelates was deleterious to protein solubility or crystallization. In two of the cases the lanthanide chelate was disordered in the crystals. These results suggest that this method may not be well suited for high-throughput crystallography. However, for difficult cases requiring a large anomalous signal, thiol-reactive lanthanide chelates may prove to be a valuable tool.
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PMID:Thiol-reactive lanthanide chelates for phasing protein X-ray diffraction data. 1207 30

The anterior horn cell diseases, with the exception of polio, are progressive degenerative diseases of the motor neurons. These disorders include SMA types I to III in children and familial and sporadic ALS and its variants (PMA, PLS, and PBP), Kennedy's disease, and SMA type IV in adults. The electrodiagnostic study is a crucial step in the diagnostic process for all of these disorders. In general, motor NCS may be normal or reveal low CMAP amplitudes with relatively normal conduction velocities. Sensory NCS, except in the case of Kennedy's disease, are normal. The NEE is notable for the often abundant presence of abnormal spontaneous activity, including fibrillation potentials and positive sharp waves, fasciculation potentials, and complex repetitive discharges. Motor unit morphology is abnormal, with polyphasic motor units and large amplitude and duration MUAPs when the disease is slowly progressive. Recruitment in affected muscles is reduced with abnormally rapidly firing motor units. To diagnose a widespread disorder of the motor neurons, abnormalities must be present in multiple muscles with different nerve root and peripheral nerve innervation in multiple limbs. The Lambert Criteria and the El Escorial Criteria are the two most widely accepted sets of electrodiagnostic criteria for ALS. The electrodiagnostic diagnosis must be supported by appropriate history and physical examination findings and the exclusion, via neuroimaging and laboratory testing, of other diseases that may mimic a generalized disorder of the motor neurons.
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PMID:Amyotrophic lateral sclerosis and other motor neuron diseases. 1279 19

Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disorder leading to quadriplegia and aphagia. While swallowing difficulties and increased energy demand lead to malnutrition, increased lipid concentration may correlate with survival and respiratory functions. Objective: To analyze the frequency and type of dyslipidemias in a large population of clinically characterized ALS patients (PALS). Methods: The retrospective study included clinical and laboratory data of 650 consecutive PALS fulfilling the El Escorial criteria and 365 age- and gender-matched hospital controls. Results: 65% of PALS suffered from dyslipidemia independently of concomitant metabolic diseases. The most frequent lipid disorder was hypercholesterolemia (35% PALS, 25% controls), followed by mixed dyslipidemia (24.6%, 14%), with rare cases of hypertriglyceridemia and atherogenic dyslipidemia. Triacylglycerols (TAG) and LDL/HDL correlated with BMI, while LDL/HDL and total cholesterol (TCh) with disease duration. Among PALS with concomitant metabolic diseases, TCh correlated with disease duration and ALSFRS-R, while TAG with respiratory functions (FVC) in patients without metabolic diseases. The highest median concentration of TCh, LDL and LDL/HDL was found in classic ALS and PMA and the lowest in PBP. Conclusion: Dyslipidemia occurs more frequently in PALS compared to controls and independently of concomitant metabolic diseases. Similar to the general population, the most frequent lipid disturbance is hypercholesterolemia, followed by mixed dyslipidemia. Although particular lipid parameters correlate with BMI and disease duration, they do not show strong correlations with disease progression rate. There is a need of randomized control trials assessing the risk and benefits of the use of lipid lowering agents in ALS.
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PMID:Dyslipidemia in patients with amyotrophic lateral sclerosis - a case control retrospective study. 3310 50