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)

Frontotemporal lobar degeneration (FTLD) is the third most common cause of cortical dementia, following Alzheimer disease and dementia with Lewy body. Clinical criteria of FTLD were reviewed, and the initial symptoms, early neuropsychological and behavioral characteristics were also reviewed. In our own 205 ALS patients, 20 patients were dementia with ALS. In those cases, early and progressive loss of social awareness and insight and paragraphia were frequently observed. In ALS patients, especially patients with bulbar symptoms, we must carefully examine the mental functions and study the brains with MRI and SPECT/PET for detection of frontotemporal dysfunction.
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PMID:[Early symptoms of frontotemporal lobar degeneration]. 1919 44

Neuroimaging studies in amyotrophic lateral sclerosis (ALS) investigating movements of the hands have in general found increased activation compared to healthy controls, which has been interpreted in terms of cortical adaptation as a result of corticospinal tract damage. Here, we investigated brain activations to vertical tongue movements using functional MRI at 3 tesla. Whereas healthy controls, patients with Kennedy syndrome, and ALS patients without bulbar involvement showed robust and indistinguishable activations in pre- and postcentral areas and the thalamus, ALS patients with bulbar involvement showed a significant decrease of cortical activity and missing thalamic activity. This decrease stands in marked contrast to the increase of activity observed in ALS patients when performing limb movements. We discuss these divergent findings with regard to the different physiological properties of tongue and limb movements. These findings may also help to explain the faster time-course of the disease in patients with bulbar involvement.
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PMID:Decreased brain activation to tongue movements in amyotrophic lateral sclerosis with bulbar involvement but not Kennedy syndrome. 1935 25

We studied two sisters with rapidly progressing ALS starting at the ages of 46 and 48 years and leading to death after 14 months. Both fulfilled the El Escorial criteria for definite ALS and had marked upper motor neuron (UMN) predominance. Brain MRI, on fluid attenuation recovery (FLAIR) mode, showed outstanding hyperintensities of the precentral gyrus, centrum semiovale, corona radiata and along the corticospinal pathways in the brainstem. Screening for the SOD1 gene disclosed, at codon 140, a base substitution of adenine for thymine (GGT>CCA) known as the A140A 'silent' mutation since it does not change the amino acid (alanine) encoded for at that position. The severe UMN involvement and the fast progression of the disease may correlate with the MRI findings. It is also possible that the A140A mutation is not incidental; the mutated mRNA might be cytotoxic.
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PMID:Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation. 1936 16

We report the case of a 66-year-old female who presented with dysarthria and dysphonia. Brain MRI abnormalities showed confluent white matter lesions and subcortical lacunar infarcts, suggesting cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), confirmed by the presence of a heterozygous mutation in the Notch3 gene. Clinical signs and course were consistent with amyotrophic lateral sclerosis (ALS) as was the electromyographic pattern. The possible pathogenic role for a mutation in the Notch3 gene is discussed considering recent data on hypoxia in the pathophysiology of ALS.
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PMID:CADASIL and ALS: a link? 1948 2

With non-invasive functional imaging techniques, neuroscience has reached a new era of connecting anatomy and function. Although other techniques bear the advantage of either higher temporal or spatial resolution, functional magnetic resonance imaging (fMRI) is the most widely used non-invasive brain imaging technique. fMRI provides an acceptable balance between low patient load and high information capacity with good spatial resolution, making it ideal for clinical research in patients with physical restrictions like those with ALS. Most fMRI studies have provided evidence of a spatial shift of function in motor and extramotor areas in ALS patients. Furthermore, MRI-based functional imaging has supported the clinical findings of frontal cortical involvement not only in patients with ALS/dementia complex but also in patients with ALS and sub-clinical cognitive impairment. Functional MRI will identify the preserved but non-executable functions in ALS patients in the end stage and will set the direction for a new way of thinking on the functional capacities of these patients which will have a major impact on our way of thinking about end-of-life decisions.
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PMID:MRI-based functional neuroimaging in ALS: an update. 1992 12

Our objective was to assess and compare the diagnostic sensitivity of conventional MRI (cMRI), magnetization transfer imaging (MTI), diffusion-weighted imaging (DWI), and proton magnetic resonance spectroscopic imaging ((1)H-MRSI) in patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS). Thirty-eight ALS patients, nine PLS patients, and 22 healthy controls were enrolled. cMRI, MTI, DWI and (1)H-MRSI were obtained. ALS patients were classified as advanced phase (Ap)-ALS (definite+probable) and early phase (Ep)-ALS (possible+probable-laboratory supported). cMRI was highly sensitive in detecting corticospinal tract (CST) hyperintensities in Ap-ALS (63.4%) and PLS (71.9%), but it was poorly sensitive in Ep-ALS (17.1%). Hyperintensity on proton density-weighted images correlated with ALS severity (p=0.02). CST apparent diffusion coefficient was significantly increased in ALS (p<0.01) and PLS (p=0.02) versus controls. The N-acetylaspartate/creatine ratio was significantly reduced in the motor cortex of patients versus controls (p< or = 0.01 in PLS, p=0.02 in Ap-ALS). The study shows the utility of cMRI for diagnosing ALS. Nevertheless, MRI sensitivity is limited at the early stages of the disease. In these cases, DWI and (1)H-MRSI seem to have the potential to ameliorate the patients' work-up and estimate the nature and extent of the underlying pathological damage.
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PMID:Structural and metabolic changes in the brain of patients with upper motor neuron disorders: a multiparametric MRI study. 1992 13

The purpose of this study was to explore cerebral structural and functional changes in amyotrophic lateral sclerosis (ALS) patients with or without dysphagia compared with healthy adults. In total, five ALS patients with dysphagia, five ALS patients without dysphagia and 10 healthy controls were evaluated using diffusion tensor magnetic resonance imaging (DTI) and event-related functional magnetic resonance imaging (fMRI) while laryngeal swallow-related movements were recorded. The fMRI data were analysed using the general linear model to gain the differential statistical map (two-sample t-test) for each group. Maps of fractional anisotropy (FA) and mean diffusivity (MD) were calculated within the masks that corresponded to the different statistical functional maps of intergroup comparisons. During the voluntary saliva swallowing, prominent activation of foci corresponded to the primary sensorimotor (SM) cortex in both ALS and controls, while decreased activation of the SM cortex was observed in ALS patients with dysphagia. DTI analysis revealed that FA was significantly reduced and MD was typically increased in the posterior limb of the internal capsule, thalamus, and anterior cingulate gyrus, as well as in the insula of ALS patients compared with controls. However, in ALS patients with dysphagia, FA and MD were more sensitive to these changes than ALS patients without dysphagia. This study highlights the potential of DTI and fMRI for monitoring structural degeneration and functional changes in patients with ALS. This study is the first to demonstrate that cerebral activation map changes correspond to distribution patterns of diffusion abnormalities. Combined non-invasive neuroimaging techniques may be useful tools to assess prognosis and study rehabilitation strategies for dysphagic ALS patients, especially for patients who are MRI-negative by conventional methods.
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PMID:Structural and functional changes mapped in the brains of amyotrophic lateral sclerosis patients with/without dysphagia: a pilot study. 1992 14

Amyotrophic lateral sclerosis (ALS) presents challenges for diagnosis and objective monitoring of disease progression. We show, using pharmacologic MRI, that alterations in motor circuitry can be characterized using a passive stimulus in a rat model of familial ALS as a function of symptom progression. Presymptomatic familial ALS rats had a pattern of activation to amphetamine that was statistically indistinguishable from the wild-type controls. In contrast, symptomatic rats showed significantly decreased response in sensorimotor cortex and increased response in M2 motor cortex, caudate/putamen, and thalamus. These results are similar to findings in humans of altered response to motor tasks in ALS. It may be plausible to use a passive amphetamine challenge as a biomarker to assess progression of the disease and efficacy of potential treatments.
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PMID:Longitudinal monitoring of motor neuron circuitry in FALS rats using in-vivo phMRI. 2011 41

During the last 20 years at least 23 cases of motor neuron disease have been reported in HIV-1 seropositive patients. In this report we describe the clinical picture of a young man with HIV-1 clade C infection and flail arm-like syndrome, who we were able to follow-up for a long period. We investigated and prospectively monitored a 34-year-old man with features of flail arm syndrome, who developed the weakness and wasting 1 year after being diagnosed with HIV-1 infection after a routine blood test. He presented in 2003 with progressive, symmetrical wasting and weakness of the proximal muscles of the upper limb of 2 years' duration. He had severe wasting and weakness of the shoulder and arm muscles. There were no pyramidal signs. He has been on HAART for the last 4 years and the weakness or wasting has not worsened. At the last follow-up in July 2007, the patient had the same neurological deficit and no other symptoms or signs of HIV-1 infection. MRI of the spinal cord in 2007 showed characteristic T2 hyperintense signals in the central part of the spinal cord, corresponding to the central gray matter. Thus, our patient had HIV-1 clade C infection associated with a 'flail arm-like syndrome.' The causal relationship between HIV-1 infection and amyotrophic lateral sclerosis (ALS)-like syndrome is still uncertain. The syndrome usually manifests as a lower motor neuron syndrome, as was seen in our young patient. It is known that treatment with antiretroviral therapy (ART) stabilizes/improves the condition. In our patient the weakness and atrophy remained stable over a period of 3.5 years after commencing HAART regimen.
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PMID:Flail arm-like syndrome associated with HIV-1 infection. 2014 61

An 80-year-old man (patient 1) was admitted to our hospital with numbness of the right leg and weakness of the lower extremities, predominantly in the right leg, for 1 year previously. Neurological examination revealed moderate weakness without atrophy, and fasciculation in the bilateral lower extremities. No hyperreflexia was noted, and the plantar response was flexor. Neither bulbar palsy nor sensory disturbance was observed. Electromyography (EMG) showed a chronic neurogenic pattern, including giant motor unit potentials and reduced interference in all four limb muscles. MRI images of the cervical and lumbar spines showed severe age-related spondylosis. The clinical and laboratory findings led to a diagnosis of spinal progressive muscular atrophy. Motor paralysis progressed slowly for the following four years, culminating in respiratory failure. A 79-year-man, the younger brother of patient 1 (patient 2), suffered from gait disturbance for 3 years before the admission to our hospital. During the following 3 years, bilateral leg weakness developed, causing difficulty walking. Neurological examination revealed a diffuse mild weakness with atrophy and fasciculation in the bilateral lower extremities; the right deltoid muscle was also mildly weak. Mild hyperreflexia was also noted on the left side, and the plantar response was extensor on the left. EMG showed acute and chronic neurogenic patterns in the four limb muscles. Because the missense mutation c.377 T > C; p.L126S was found on exon 5 of the superoxide dismutase (SOD) 1 gene in this patient, a diagnosis of familial ALS was made. Eight patients reported as familial ALS with the SOD1L126S mutation, including the present cases, all developed an onset of weakness in the lower extremities, but showed few upper motor neuron signs. It is important to consider the possibility of this type of familial ALS in a case of spinal progressive muscular atrophy with late-onset and mild progression, if family history is positive.
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PMID:[Two cases of familial amyotrophic lateral sclerosis with a SOD1L126S mutation showing high age at onset and slow progression]. 2023 85


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