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)

We report here muscle MRI findings of the lower limb in X-linked spinal and bulbar muscular atrophy (SBMA). T1-weighted imaging of muscle MRI disclosed that the thigh muscles, including the semimembranosus, biceps femoris longus and the vastus lateralis muscles, showed high intensity signals with atrophy. Contrarily, the sartorius, gracilis and rectus femoris muscles were comparably preserved. Not only the thigh muscles, but also the calf muscles including the gastrocnemius medialis and lateralis, and soleus muscles showed high intensity signals. In amyotrophic lateral sclerosis (ALS), the leg muscles are generally atrophic, but the selective pattern of fatty degeneration, seen in SBMA was not observed. Muscle MRI is a useful method of estimating the distribution and severity of SBMA in affected muscles.
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PMID:Muscle MRI findings of X-linked spinal and bulbar muscular atrophy. 1524 Feb 2

Mice over-expressing the mutant human G93A-SOD1 are widely used as an animal model of amyotrophic lateral sclerosis (ALS). ALS is characterized by progressive degeneration of motor neurons in the motor cortex, brain stem and spinal cord. The underlying mechanisms for the selective death of motor neurons are still uncertain. To study factors that cause selective neuron degeneration or therapeutic approaches to delay the progression of the disease, a method is required to monitor the state of motor neurons under in-vivo conditions. Here, we demonstrate that in G93A-SOD1 mice the MRI signal intensities of nucleus V, VII, XII, and nucleus ambiguus show a time-dependent increase starting around day 90, parallel to first behavioral signs of a motoneuron disorder.
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PMID:Age-dependent changes in MRI of motor brain stem nuclei in a mouse model of ALS. 1537 48

A 44-year-old man was admitted to our hospital because of a five year history of chronic progressive gait disturbance. Neurological examination revealed mild weakness and atrophy of the upper extremities, but severe of the lower ones, and without sphincter disturbance or apparent sensory impairment. Hyperreflexia and positive pathological reflexes of the lower extremities were apparent. EMG showed a reinnervation pattern and decreased number of motor units in the extremities, suggesting ALS. However, multiple plaques on the head and spinal MRI, a prolonged central conduction time of MEP and SEP, a delayed P100 latency of VEP, and a increased IgG index in the CSF indicated primary progressive type multiple sclerosis. After receiving steroid pulse therapy, the weakness of the lower extremities showed slight improvement. Diffuse inflammation in the spinal cord involving not only the pyramidal tract but also the anterior horn cells/intramedullary ventral roots explained the ALS-like clinical picture.
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PMID:[Primary progressive multiple sclerosis as a differential diagnosis of ALS: a case report]. 1578 6

This MRI study was performed to evaluate in vivo alterations of the spinal cord in defined subgroups of motor neuron diseases. Standard MRI examinations of the cervical and thoracic spinal cord in sporadic amyotrophic lateral sclerosis (ALS; n = 39), sporadic lower motor neuron disease (LMND; n = 19), Kennedy's disease (KD; n = 19) and a control group (n = 96) were analyzed with respect to spinal cord signal changes and the thickness of the spinal cord. No significant changes in thickness or signal alterations were observed when comparing ALS, LMND and control groups with one another. However, in KD patients significant upper spinal cord atrophy was detected at the cervical level as compared with all other groups. At the thoracic level, KD patients had significant upper cord atrophy as compared with controls and LMND. Marked atrophy of the upper spinal cord seems to be a feature of the KD-associated central-peripheral distal axonopathy.
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PMID:MR-pathologic comparison of the upper spinal cord in different motor neuron diseases. 1578 72

In X-linked hereditary demyelinating neuropathies (CMTX), caused by mutations in Connexin 32, mild subclinical CNS involvement is not unusual. We present a young male patient suffering from genetically proven CMTX who presented with permanent bilateral corticospinal tract hyperintensities in cranial MRI -- a finding previously described to be characteristic for amyotrophic lateral sclerosis. MRI seems to be able to visualize corticospinal tract abnormalities, even if subclinical, in CMTX.
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PMID:Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. 1605 Oct 98

There is an intensive search for diagnostic markers in amyotrophic lateral sclerosis (ALS). Protein analysis (proteomics) of the cerebrospinal fluid (CSF) appears particularly promising using mass spectrometry and 2-D gel electrophoresis to detect low and high molecular weight proteins, respectively. It is open whether protein changes specific for ALS will be found. This also holds true for inflammatory proteins such as the cytokine monocyte chemoattractant protein-1 which has been detected in CSF in ALS and for other cytokines such as interleukin-1beta. Increases of the protein Nogo A and B in muscle tissue and decreases of the growth factor vascular endothelial growth factor in blood may also be useful for monitoring the course of ALS. Clinical neurophysiology provides markers for upper and lower motor neuron damage. A very sensitive method to detect early upper motor neuron involvement is the transcranial magnetic stimulation modification 'triple stimulation technique' which can show significant changes in patients without clinical upper motor neuron signs. The loss of lower motor neurons can be closely monitored by MUNE techniques (motor unit number estimate). In modern imaging, the MRI technique DTI (diffusion tensor imaging) has the greatest diagnostic potential for ALS. It can separate between normal and ALS in group comparisons and may be improved to be diagnostic in individual patients. Voxel-based morphometry can reliably demonstrate regional cortical atrophy in motor areas and beyond although it is not appropriate for use in individual patients.
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PMID:Amyotrophic lateral sclerosis: new developments in diagnostic markers. 1690 23

Neurodegeneration refers to a large clinically and pathologically heterogeneous disease entity associated with slowly progressive neuronal loss in different anatomical and functional systems of the brain. Neurodegenerative diseases often affect cognition, e.g. Alzheimer's disease (AD), dementia with Lewy bodies and vascular dementia, or different aspects of the motor system, e.g., amyotrophic lateral sclerosis, Parkinson's disease and ataxic disorders. Owing to increasing knowledge about the mechanisms leading to neurodegeneration, the development of treatments able to modify the neurodegenerative process becomes possible for the first time. Currently, clinical outcome measures are used to assess the efficacy of such treatments. However, most clinical outcome measures have a low test-retest reliability and thus considerable measurement variance. Therefore, large patient populations and long observation times are needed to detect treatment effects. Furthermore, clinical outcome measures cannot distinguish between symptomatic and disease-modifying treatment effects. Therefore, alternative biomarkers including neuroimaging may take on a more important role in this process. Because MR scanners are widely available and allow for non-invasive detection and quantification of changes in brain structure and metabolism, there is increasing interest in the use of MRI/MRS to monitor objectively treatment effects in clinical trials of neurodegenerative diseases. Particularly volumetric MRI has been used to measure atrophy rates in treatment trials of AD because the relationship between atrophic changes and neuron loss is well established and correlates well with clinical measures. More research is needed to determine the value of other MR modalities, i.e. diffusion, perfusion and functional MRI and MR spectroscopy, for clinical trials with neuroprotective drugs.
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PMID:Evaluation of treatment effects in Alzheimer's and other neurodegenerative diseases by MRI and MRS. 1698 15

A 70-year-old Japanese male farmer, born and living in Kyoto prefecture, developed gait disturbance, with tendency to fall at age 68, and muscle atrophy and weakness of the right shoulder and arm a year and half later. All symptoms have been progressive ever since. The patient manifested marked dementia, parkinsonism associated with limitation of ocular movements in all directions with slow saccade, loss of startle reflex, asymmetric muscle atrophy and weakness in shoulder girdles and upper limbs with hyperreflexia, and positive Babinski reflexes. The needle electromyogram showed evidence of active denervation. Brain MRI showed cortical atrophy in the frontal and temporal lobes, and midbrain tegmentum. Cerebral blood flow image on SPECT suggested hypoperfusion in the frontal, temporal and parietal cortices and basal ganglia bilaterally. Thus, it is most likely that the present case suffered from clinical features of amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy at the same time. Relation to the ALS/Parkinsonism/Dementia complex reported from Kii peninsula and Guam was discussed.
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PMID:[Case presenting both clinical features of progressive supranuclear palsy and amyotrophic lateral sclerosis]. 1698 99

Familial spastic paraplegia (FSP) with severe muscular atrophy of hands and feet is exceptional. Autosomal dominant forms were initially described by Silver in 1966. We report two cases, from the same Tunisian family, presenting FSP with severe amyotrophy of the hands. A brother and his sister, aged respectively 37 and 36 years old, presented practically the same clinical picture. Their parents were cousins. The female patient was hospitalized. Both patients developed gait disorders around the age of three years. Muscular atrophy of the hands arose much later, around the age of 20 years. The neurological examination disclosed a spastic gait with distal amyotrophy, severe in the hands and moderate in the feet. Sensitivity was preserved and there was no fasciculation. The spinal cord and cerebral MRI was normal. Electromyography (EMG) showed a neurogenic pattern in the distal muscles. Stimulation of the median, ulnar and sciatica nerves was ineffective. The somatosensory evoked potentials (EP) were delayed (upper limb) or desynchronised (lower limb). The auditory and visual EP were normal. The cerebrospinal fluid contained 1 mononuclear cell/mm3 and 10 mg protein/100 ml. Abnormalities of the cranio-vertebral junction, Arnold-Chiari malformation, syringomyelia and familial juvenile amyotrophic lateral sclerosis (ALS) were excluded and the diagnosis of Silver's syndrome was evoked.
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PMID:[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. 1745 50

The incidence of ALS in Wakayama Prefecture has been markedly higher than that elsewhere in the world. Recently, however, the incidence has gradually decreased, especially in men, and the age at onset has shifted to the elderly, indicating the possible role of exogenous factors in the development of ALS. To evaluate factors related to the disease, we conducted a retrospective study. This study examined 108 patients with definite ALS diagnosed according to El Escorial criteria and 302 neurological controls (older than 40 years old) consecutively admitted to Wakayama Medical Hospital between 1999 and 2004. Having past history of cervical spondylosis or spinal spondylotic myelopathy (CS/SSM) with/without surgical treatment, cervical MRI findings, history of bone fracture, and occupation at onset were compared between the ALS patients and the neurological controls. Among 108 ALS patients, 45.4% had past history of CS/SSM compared to 19.4% of the neurological controls (p<0.0001, OR: 3.725, 95% CI 2.173-6.387). Among the ALS patients, 13% had had surgical treatment for CS/SSM, which was significantly higher than the 4.3% of the neurological controls (p<0.003, OR: 4.333, 95% CI 1.647-11.401). Cervical MRI findings were classified into four grades according to the severity of canal narrowing and compression of the spinal cord. Regarding cervical MRI findings, the percentage of ALS patients who showed canal narrowing and compression of the spinal cord was significantly higher than that of the controls (ALS: 72.0%, the controls: 29.5%, OR: 4.799, 95% CI 2.65-8.70). Comparison of the occupation at disease onset revealed that primary and secondary industrial occupations significantly increased the risk of ALS (2.69, 95% CI 1.40-5.16, 2.81, 95% CI 1.45-5.46, respectively). Conversely, tertiary industrial occupations significantly decreased the risk of ALS (age- and sex-adjusted OR: 0.54, 95% CI 0.30-0.98). In conclusion, CS/SSM, surgical treatment for CS/SSM and occupation at onset are suspected to be risk factors for developing/triggering or worsening ALS.
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PMID:The role of exogenous risk factors in amyotrophic lateral sclerosis in Wakayama, Japan. 1753 76


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