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)

Amyotrophic lateral sclerosis (ALS) is the most common, progressive motor neurone disease but is rare in the obstetric population. Only 4 cases have been described in the English literature since 1975. We describe a 29 year old woman who presented with ataxia, lower limb weakness and dysarthria 4 weeks after the birth of her first child. The symptoms had onset during the pregnancy but had not been considered remarkable. There were clinical features of upper and lower motor neurone involvement without any sensory loss. MRI of brain and spine was normal. CSF analysis was negative. EMG studies confirmed the presence of widespread anterior horn cell dysfunction compatible with ALS. The patient was commenced on Riluzole and has progressed clinically, at 12 months post diagnosis.
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PMID:Amyotrophic lateral sclerosis associated with pregnancy. 1179 21

A 61-year-old woman with a history of photosensitive dermatitis and recurrent mouth ulcers presented with progressive weakness typical of amyotrophic lateral sclerosis (ALS), and subsequently underwent extensive neurologic and rheumatologic testing. We investigated whether ALS-like motor neuron disease associated with a positive antinuclear antibody (ANA) is really ALS or rather neuropsychiatric systemic lupus erythematosus (NPSLE). On neurologic evaluation, she had prominent bulbar involvement with dysarthria and dysphagia associated with profound lingual fasciculations and a denervating pattern on electromyogram. MRI showed no evidence of cerebral ischemia. Laboratory studies revealed a positive ANA (1:2560 titer), positive antiphospholipid antibodies (GPL and MPL), circulating lupus anticoagulant, and depressed C3 and C4. Repeat MRI studies at 4 and 11 mo revealed an evolving infarct in the paramedian pons consistent with the presence of NPSLE. Therapy was initiated with corticosteroids and intravenous cyclophosphamide, and the neurologic condition did not improve, but also did not progress inexorably as would be expected with ALS. NPSLE, presumably through the mechanism of ischemic vasculopathy, may present as motor neuron disease clinically indistinguishable from ALS.
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PMID:Neuropsychiatric systemic lupus erythematosus presenting as amyotrophic lateral sclerosis. 1190 83

Amyotrophic lateral sclerosis (ALS) is a predominantly clinical and electromyographic diagnosis. Conventional MRI reveals atrophy of the motor system, particularly the pyramidal tract, in the advanced stages but does not provide a sensitive measure of disease progression. Three patients with different principal symptoms of ALS, i.e., with predominant involvement of the upper (UMN) or lower (UMN) motor neurons, or bulbar disease, respectively, underwent serial clinical examination including lung function tests, conventional MRI, and diffusion tensor imaging (DTI). MRI demonstrated changes in of the pyramidal tract without measurable variation on follow-up. The patient with UMN involvement showed remarkable progressive loss of diffusion anisotropy in the pyramidal tract. DTI might be useful, together with clinical follow-up, as an objective morphological marker in therapeutic trials.
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PMID:Diffusion tensor imaging for long-term follow-up of corticospinal tract degeneration in amyotrophic lateral sclerosis. 1290 24

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative system disorder affecting both upper and lower motor neurons. Despite supportive electrophysiological investigations, the involvement of the upper motor neuron is often difficult to assess at an early stage of disease. Diffusion tensor MRI provides an estimate of the orientation of fibre bundles in white matter on the basis of the diffusion characteristics of water. Diffusivity is generally higher in directions along fibre tracts than perpendicular to them. This degree of directionality of diffusion can be measured as fractional anisotropy. Changes in tissue structure due to degeneration of the corticospinal fibres can lead to a modification of the degree of directionality which can be detected by diffusion tensor MRI. We investigated 15 patients with ALS, six of whom had no clinical signs of upper motor neuron involvement at the time of MRI investigation, but developed pyramidal tract symptoms later in the course of their disease. These patients met the El Escorial criteria as their disease progressed. We found a decrease in fractional anisotropy in the corticospinal tract, corpus callosum and thalamus in all 15 ALS patients, including the patients without clinical signs of upper motor neuron lesion, compared with healthy controls. Regression analysis showed a negative correlation between fractional anisotropy and central motor conduction time obtained by transcranial magnetic stimulation, allowing spatial differentiation between the degenerated corticospinal tract fibres that supply the upper and lower extremities. Thus, diffusion tensor MRI can be used to assess upper motor neuron involvement in ALS patients before clinical symptoms of corticospinal tract lesion become apparent, and it may therefore contribute to earlier diagnosis of motor neuron disease.
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PMID:Diffusion tensor MRI of early upper motor neuron involvement in amyotrophic lateral sclerosis. 1460 85

Several neuroimaging modalities have been used with varying success to aid the clinical process of establishing the diagnosis of amyotrophic lateral sclerosis (ALS). By demonstrating evidence of occult upper motor neuron degeneration in vivo, a speedier and more definitive diagnosis in suspected cases could lead to earlier treatment and earlier enrollment in clinical trials. Findings compatible with ALS on routine MRI are not consistently found and are non-specific. Thus, routine anatomic imaging is useful in ruling out diseases that mimic ALS, but not in classification of new cases. Functional imaging techniques, such as PET and fMRI, have provided fascinating insights into the cortical functional reorganization that accompanies muscular weakness. PET and SPECT have revealed involvement of regions of the brain beyond the motor cortex, something not well appreciated by pathological examination. Of great need is a surrogate marker of therapeutic efficacy to make drug evaluation more efficient; neuroimaging, and magnetic resonance spectroscopy in particular, holds great promise in this regard in addition to helping us better understand the of neurodegeneration.
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PMID:Neuroimaging in amyotrophic lateral sclerosis. 1475 58

We report on a case of polymicrogyria with benign childhood epilepsy and amyotrophic lateral sclerosis (ALS). While performing dexterity tasks with either hand, strong unsustained mirror movements of the unintended hand were observed. The patient was seen over a period of three years and, as often seen in ALS, there was a moderate progress of the motor neuron disease affecting the upper and lower motor neuron in an asymmetrical manner. In addition, more rapidly progressive bulbar symptoms could be observed by the clinical and neurophysiological examination. MRI revealed polymicrogyria of the right frontal lobe with irregular bumpy inner and outer surface and abnormally thick and smooth cortex, dysplastic insular cortex and asymmetrically widened Sylvial fissure. No signs of atrophy, especially of the motorcortex and corticospinal tract were observed. The corpus callosum was completely developed and of normal size. We hypothesize an enrolment of the dysplastic right frontal lobe pathophysiology of the observed mirror movements.
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PMID:Amyotrophic lateral sclerosis (ALS) and mirror movements in a patient with polymicrogyria. 1475 62

MRI has been used to measure hindlimb muscle volume in female and male transgenic mice overexpressing the Gly93Ala (G93A) mutant human superoxide dismutase 1 (SOD1), a widely used model of familial amyotrophic lateral sclerosis (FALS), over the first 4 months of life. Significant decreases in the hindlimb muscle volume of the female G93A SOD1 mice were evident from 11 weeks of age, before other overt pathology appeared. By 15 weeks volume had decreased by 37% compared with 7 weeks, from 0.84+/-0.04 cm(3) (mean+/-standard deviation, n = 6) to 0.54+/-0.07 cm(3), (p < 0.05), despite an increase in body weight of ca. 12% (from 16.2 +/- 1.4 to 18.1 +/- 0.7 g). Female wild-type volume increased by ca. 30% whilst the body weight increased by 15%. Muscle wasteage was less (0.82+/-0.1 to 0.65+/-0.02 cm(3), p < 0.05, n = 6) in male G93A SOD1 mice between 8 and 16 weeks of age, against a body weight increase trend from 20.7 +/- 0.4 to 21.6 +/- 0.5 g, (p > 0.05). Wild-type male muscle volume did not change significantly over this period, with an increase in body weight of 20%. Longitudinal MRI hindlimb muscle volume measurements may provide a straightforward, rapid, non-invasive and sensitive, way of monitoring outcome of experimental ALS treatments.
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PMID:MRI detects early hindlimb muscle atrophy in Gly93Ala superoxide dismutase-1 (G93A SOD1) transgenic mice, an animal model of familial amyotrophic lateral sclerosis. 1501 Dec 48

Spinal muscular atrophies are heterogeneous group. The diagnostic process should be careful to uncover the main differential diagnoses and to identify familial cases. Clinical phenotype is highly variable. In familial ALS cases with SOD1 mutation, the clinical scene may mimic spinal muscular atrophy. A careful questionning and a complete electroneuromyographic exam are warranted to allow the neurologist to choose among more invasive investigations for differential and positive diagnosis such as MRI, nerve or muscle biopsy, genetic analysis.
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PMID:[Spinal muscular atrophies in the adult]. 1503 81

We are presenting a case of Parkinson-ALS-Dementia complex in 53 years old male. Outstanding bulbar signs with muscular atrophy of tongue, muscular atrophy of shoulder girdle together with massive fasciculations (myoclonus type descending from spinal cord) have been observed. Clear Parkinson's syndrome coexisted--bradykinesia, rigidity with cogwheel resistance, "masking" of the face, disturbances of body balance and significant vegetative signs. Moreover psychological testing has shown psycho-organic syndrome of frontal type, MRI scans proved the existence of slight brain general atrophy that is most prominent in frontal et temporal poles. Diseases of this kind occur all over the world sporadically. The case of ALS--dementia complex was observed in our clinic a year ago.
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PMID:[Parkinsonism-ALS-dementia complex: case report]. 1509 46

The cognitive impairment revealed in some non- demented amyotrophic lateral sclerosis (ALS) patients is characterized by executive dysfunction with widely repeated deficits on tests of verbal (letter) fluency. However, conflicting evidence exists of an impairment on other word retrieval tasks, such as confrontation naming, which do not place heavy demands on executive processes. Previous research has demonstrated intact confrontation naming in the presence of verbal fluency deficits, although naming deficits have been described in other studies. In this investigation, functional MRI (fMRI) techniques were employed to explore whether word retrieval deficits and underlying cerebral abnormalities were specific to letter fluency, which are more likely to indicate executive dysfunction, or were also present in confrontation naming, indicating language dysfunction. Twenty-eight non-demented ALS patients were compared with 18 healthy controls. The two groups were matched for age, intelligence quotient, years of education, and anxiety and depression scores. Two compressed-sequence overt fMRI activation paradigms were employed, letter fluency and confrontation naming, which were developed for use with an older and potentially impaired population. In ALS patients relative to controls, the letter fluency fMRI task revealed significantly impaired activation in the middle and inferior frontal gyri and anterior cingulate gyrus, in addition to regions of the parietal and temporal lobes. The confrontation naming fMRI task also revealed impaired activation in less extensive prefrontal regions, including the inferior frontal gyrus and regions of the temporal, parietal and occipital lobes. These changes were present despite matched performance between patients and controls during each activation paradigm. The pattern of dysfunction corresponded to the presence of cognitive deficits on both letter fluency and confrontation naming in the ALS group. This study provides evidence of cerebral abnormalities in ALS in the network of regions involved in language and executive functions. Moreover, the findings further illustrate the heterogeneity of cognitive and cerebral change in ALS.
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PMID:Word retrieval in amyotrophic lateral sclerosis: a functional magnetic resonance imaging study. 1516 10


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