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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 57 year-old woman with amyotrophic lateral sclerosis (ALS) and an apraxia of eyelid closure was reported. Her first symptom was muscle weakness in the right arm. Since neurological examination showed mainly upper motor neuron sign with neurogenic pattern in the needle electromyograms of the tongue and limb muscles, she was diagnosed as ALS. Two years and 6 months later from onset, she showed an inability to close her eyelids voluntarily or on command with normal reflex closure. MRI of the brain showed atrophy in the frontal lobe and anterior of the temporal lobe, where 123 I-IMP SPECT revealed hypoperfusion. Considering previous reports, there might be an ALS subset who showed atrophy of frontal lobe together with apraxia of eyelid closure.
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PMID:[An apraxia of eyelid closure in association with frontal lobe atrophy in a patient with amyotrophic lateral sclerosis]. 1758 5

Brain atrophy is a typical feature of many neurological conditions. Therefore, quantitative evaluation and spatial characterization of atrophy are potentially useful for monitoring the evolution of central nervous system (CNS) disorders. In this study, a method for measuring atrophy of the major white matter (WM) fiber bundles in the brain using diffusion tensor (DT) MRI data is developed. To this end, an atlas was created from sets of diffusion anisotropy images from normal subjects, and the deformations necessary to match single subject anisotropy images to this atlas were then computed. Because diffusion anisotropy images were used, this approach should be sensitive to fiber bundle volume changes in the same way that using T1-weighted images allows gray matter volume changes to be measured. The Jacobian determinant of the deformation field for each subject was then used as a measure of contraction or expansion of the tissue at each image voxel. An overview of the nonlinear registration problem is given; then an optimization of the parameters for the chosen algorithm is performed and the method for producing the atlas is described. The effectiveness of the method was then tested on data from five patients with multiple sclerosis (MS) and two patients with amyotrophic lateral sclerosis (ALS).
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PMID:Assessing atrophy of the major white matter fiber bundles of the brain from diffusion tensor MRI data. 1776 53

The neural correlates of motor execution in Amyotrophic Lateral Sclerosis (ALS) are challenging to investigate due to muscle weakness. Alternatives to traditional motor execution paradigms are therefore of great interest. This study tested the hypothesis that patients with Amyotrophic Lateral Sclerosis (ALS) would show increased cortical activation during motor imagery compared to healthy controls, as seen in studies of motor execution. Functional MRI was used to measure activation during a block design paradigm contrasting imagery of right hand movements against rest in 16 patients with ALS and 17 age-matched healthy controls. Patients with ALS showed reduced activation during motor imagery in the left inferior parietal lobule, and in the anterior cingulate gyrus and medial pre-frontal cortex. This reduction in cortical activation during motor imagery contrasts with the pattern seen during motor execution. This may represent the disruption of normal motor imagery networks by ALS pathology outside the primary motor cortex.
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PMID:Cortical activation during motor imagery is reduced in Amyotrophic Lateral Sclerosis. 1776 11

In this study, we investigated whether diffusion tensor MRI (DTI) could detect progressive corticospinal tract degeneration in amyotrophic lateral sclerosis (ALS) and whether changes in diffusion variables reflected clinical deterioration. Twenty-three ALS patients and 25 healthy volunteers underwent whole brain DTI. Patients and a subset (n = 12) of controls returned for a second scan. Clinical measures of disease severity were assessed in the ALS group. Changes in fractional anisotropy (FA) and mean diffusivity (MD) were measured along the corticospinal tract using a region of interest approach. Adequate DTI data were available in 11 ALS patients and 11 controls at two time points. FA and MD differed significantly between ALS patients and controls at both time points, but neither changed significantly over time, while global measures of disease severity in patients increased with time. Although we confirmed that DTI detects corticospinal tract damage in ALS, there were no significant changes in diffusion measures over time. The sensitivity of DTI may be improved by advanced data analysis techniques, although the high dropout rate suggests that use of MRI as a biomarker in ALS may be restricted to earlier stages of disease.
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PMID:A longitudinal study of diffusion tensor MRI in ALS. 1792 35

A reliable objective marker of upper motor neuron (UMN) involvement is critical for early diagnosis and monitoring disease course in patients with amyotrophic lateral sclerosis (ALS). Lower motor neuron (LMN) involvement can be identified by electromyography, whereas UMN dysfunction has been currently distinguished solely by neurological examination. In the search for diagnostic tests to evaluate UMN involvement in ALS, numerous reports on new markers using neurophysiological and imaging techniques are accumulating. Transcranial magnetic stimulation evaluates the neurophysiological integrity of UMN. Although the diagnostic reliability and sensitivity of various parameters of central motor conduction measurement differ, central motor conduction time measurement using brainstem stimulation is potentially useful for determining UMN dysfunction by distinguishing lesions above the pyramidal decussation. MR-based techniques also have the potential to be used as diagnostic markers and are continuously improving as a modality to pursue early diagnosis and monitoring of the disease progression. Conventional MRI reveals hyperintensity along the corticospinal tract, hypointensity in the motor cortex, and atrophy of the precentral gyrus. There is a lack of agreement regarding sensitivity and specificity in detecting UMN abnormalities. Recent advances in magnetizing transfer imaging (MTI) provide more sensitive and accurate detection of corticospinal tract abnormality than conventional MRI. Reduction in N-acetyl-aspartate by proton magnetic spectroscopy in the motor cortex or the brainstem of the patients with ALS is reported with different techniques. Its diagnostic value in clinical assessment is uncertain and remains to be established. Diffusion tensor imaging (DTI) reveals the structural integrity of neuronal fibers, and has great diagnostic promise for ALS. It shows reduced diffusion anisotropy in the corticospinal tract with good correlation with physiological index, reflecting UMN pathology. Diffusion tensor tractography allows for visualization and evaluation of corticospinal and corticobulbar tract dysfunction individually in patients with ALS. Although many of these new approaches do not yet reach clinical significance, they have been extensively explored in objective evaluation of upper motor function in patients with ALS. Further investigation is needed to determine and to compare the utility of various neurophysiological and neuroimaging markers.
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PMID:[Objective markers for upper motor neuron involvement in amyotrophic lateral sclerosis]. 1796 45

During 1996 and 2006, we examined clinically 37 patients and neuropathologically 13 autopsy cases with amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula (Kii ALS/PDC). The ages of onset were between 52 years and 74 years (mean age: 65.3 years). The male to female ratio was 1:1.85. The ratio of positive family history where ALS or PDC occurred within the fourth degree of the relatives was 78.4% in the patients with Kii ALS/PDC. The average duration of the illness was 6.47 years. Kii ALS/PDC was divided into five clinical subtypes, pure ALS form, ALS with dementia form, PDC with parkinsonism predominant form, PDC with dementia predominant form (that is called late-life dementia in Guam) and PDC with ALS features form. Unique pigmentary retinopathy was found in 33.3% of the patients with Kii ALS/PDC. CT/MRI images showed atrophy of the frontal and temporal lobes and SPECT images showed a decrease in the blood flow of the frontal and temporal lobes. The cardiac 123I-MIBG uptake was decreased in 4 out of 8 patients with ALS/PDC and the decrease in uptake correlated with the modified Hoehn-Yahr staging. The cardinal neuropathological features of Kii ALS/PDC were abundant neurofibrillary tangles (NFTs) associated with loss of nerve cells in the cerebral cortex and the brain stem, and findings of ALS neuropathology. Ultrastructurally, NFTs consisted of paired helical filaments. Tau protein, a main component of NFTs, was consisted of 3R and 4R tau isoforms, and phosphoryrated at 18 sites of tau phosphoryrated sites. The neurons of dentate gyrus of hippocampus and anterior horn cells were stained with anti-TDP-43 antibody. The clinical and neuropathological aspects of Kii ALS/PDC are regarded as being identical with those of Guam ALS/PDC.
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PMID:[Clinical aspects, imaging and neuropathology of Kii ALS/PDC]. 1821 Aug 50

The line distinguishing motor neuron diseases (MNDs) from motor neuropathies is sometimes blurred. Among MNDs, the pseudopolyneuritic form of amyotrophic lateral sclerosis (ALS) strictly mimics a neuropathy. We describe the clinical and electrophysiological features in the early stages of the pseudopolyneuritic ALS, and assess the disease progression in eight patients. Early symptoms were unilateral foot-drop and, less commonly, paraparesis. At the clinical examination, weakness of distal and proximal leg muscles was often detected, while the hand muscles were rarely involved and craniobulbar muscles were spared. Definite upper motor neuron signs were rare in the early stages of the disease. Electromyography (EMG) showed active denervation in the lower limbs of all patients (distal > proximal) and in the paraspinal muscles of 7 patients (lumbosacral > thoracic), and more rarely in the upper limbs. Transcranial magnetic stimulation (TMS) yielded abnormal responses (low amplitude or absent cortical motor evoked potentials and prolonged central motor conduction time) in most lower-limb recordings, while mild abnormalities were rarely observed in the upper limbs. Haematologic and cerebrospinal fluid examinations were normal. Brain and spinal MRI showed no significant abnormalities. After a three years follow-up on seven patients, all cases were nonambulatory and had upper limb weakness, and most of them had bulbar dysfunction. The electrophysiological finding of both upper and lower motor neuron involvement of the lower limbs in the early stages of the disease could be a useful marker to distinguish the pseudopolyneuritic form of ALS from other MNDs and motor neuropathies.
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PMID:The pseudopolyneuritic form of amyotrophic lateral sclerosis (Patrikios' disease). 1843 11

We describe three patients referred to our ALS/MND clinic with suspected diagnosis of amyotrophic lateral sclerosis (ALS). The patients were all male, middle aged, and their initial symptoms were weakness and fasciculations in upper limb muscles. Results of clinical and electrophysiological examination in all cases were in accordance with possible ALS according to the revised El Escorial criteria. Other conditions mimicking ALS appeared to be excluded by extensive technical examinations and laboratory tests. Only repeated MRI examinations revealed anterior spinal cysts several years after symptom onset. This report intends to highlight this rare and difficult differential diagnosis of ALS and underlines the value of the revised El Escorial criteria in conjunction with electrophysiology to asses the certainty of the diagnosis ALS.
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PMID:Anterior cysts of the spine: a difficult differential diagnosis to amyotrophic lateral sclerosis. 1867 32

Our objective was to investigate grey matter (GM) contraction in patients with amyotrophic lateral sclerosis (ALS) using tensor based morphometry (TBM). Using a 1.5 Tesla scanner, T1-weighted MRI scans were obtained at baseline and at follow-up (mean interval, 9 months) from 16 ALS and 10 controls. Standard TBM procedures in Statistical Parametric Mapping (SPM2) were used for image processing and statistical analyses. The frontotemporal cortex and basal ganglia were considered areas of interest, based on pathological studies. Eight patients showed rapid clinical progression of ALS during the follow-up period. Compared to controls, all ALS patients showed progression of GM atrophy in left premotor cortex and right basal ganglia. Patients with rapidly progressing ALS showed GM atrophy changes in a larger motor cortical-subcortical area and in extramotor frontal regions compared to both controls and to non-rapidly progressing cases. Thus, TBM detected longitudinal atrophy changes in the motor network in ALS occurring over less than one year. The faster the clinical progression, the greater was the GM loss in motor and prefrontal areas. Further advances in tracking longitudinal changes in cortical and subcortical regions in ALS may provide an objective marker for monitoring disease progression, and the disease-modifying effect of potential treatments.
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PMID:Longitudinal assessment of grey matter contraction in amyotrophic lateral sclerosis: A tensor based morphometry study. 1905 55

There is an ongoing discussion whether ALS is primarily a disease of upper motor neurons or lower motor neurons. We undertook a review to assess how new insights have contributed to solve this controversy. For this purpose we selected relevant publications from 1995 onwards focussing on (1) primary targets and disease progression in ALS and variants of ALS, (2) brain imaging markers for upper motor neuron lesion, and (3) evidence for ALS being a multisystem disorder. Clinically, upper motor and lower motor neuron symptoms can occur in any order over time. Brain imaging markers show upper motor neuron involvement in early disease. Overlap syndromes of ALS and dementia, and involvement of autonomic and sensory nerves occur frequently. PET/SPECT scans, functional MRI and voxel based morphometry studies clearly show abnormalities in extra-motor areas of the brain. Pathologically, the 43 kDa TAR DNA-binding protein (TDP-43) provides a clue to these overlapping disorders. In conclusion, evidence accumulates that ALS is a multisystem disorder rather than a pure lower and/or upper motor neuron disorder.
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PMID:Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: a clinical and brain imaging review. 1907 Apr 91


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