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)

A rare case of motor neuron disease and involvement of the pallido-luysio-nigral system and brainstem tegmentum is presented. A 51-year-old man developed progressive muscle atrophy with fasciculation predominantly in the shoulder girdle, upper arms, upper back, and neck in addition to hyperreflexia and a positive Chaddock reflex. He also had retinitis pigmentosa, high arched palate, and mild hand tremor. He eventually developed bulbar palsy and died of paralysis of the respiratory muscles 11 years after the onset of his illness. Neuropathological examinations showed prominent neuronal loss and gliosis in the pallido-luysio-nigral system and the tegmentum of the brainstem in addition to the simultaneous involvement of the upper and lower motor neurons. This patient and 6 similar patients are discussed in relation to pallido-luysio-nigral atrophy and the topographic distribution of degeneration in amyotrophic lateral sclerosis.
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PMID:Motor neuron disease with involvement of the pallido-luysio-nigral system and mesencephalic tegmentum. 852 30

This paper presents an account of chronic-progressive Spinobulbar Spasticity (SBS) or Primary Lateral Sclerosis (PLS), a rare syndrome involving degeneration of the upper motoneuron, on the basis of 6 clinically examined cases. Individuals of both sexes can be affected. Onset of the syndrome occurs around the age of 54, but may sometimes be before 50. Early symptoms of the disease are spasticity on one leg and disturbance of motor skills in one hand. The symptoms generalize within two to three years into tetraspasticity accentuated in the legs, accompanied by pseudo-bulbar dysarthria and dysphagia, which, however, may also be present at the onset of the disease. Compulsive laughing and crying, optokinetic disturbances and facial stiffness develop as additional, though inconstant symptoms. Disease courses of 25 years were observed. Therapy is symptomatic. Fasciculation and muscular atrophy, which would indicate a transition to Amyotrophic Lateral Sclerosis (ALS), were not observed even if the disease was of longstanding. SBS differs from spastic spinal paralysis by virtue of its greater mean age of incidence, its tetraspasticity in conjunction with pseudobulbar signs, and-so far as can be established to date-its apparent non-hereditariness. An influence of exotoxic factors has not been demonstrated so far. The clinical syndrome results from a selective degeneration of the corticospinal and cortico-bulbar tracts up to the motor cortex, where loss of original pyramidal cells has been shown to occur (Pringle et al., 1992). The paper includes a survey of the clinical and neuropathological findings in cases of SBS published so far. Extensive anamnestic and clinical records including TCMS-studies, PET and NMR-CT scans performed in the parasagittal plane are essential for early diagnosis of the syndrome.
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PMID:[Chronic progressive spinobulbar spasticity (primary lateral sclerosis)]. 867 41

In three patients, men of 43, 44 and 55 years old with muscle cramps, fasciculations and easy fatiguability of muscles, cramp-fasciculation syndrome was diagnosed. This is a benign disorder which has to be differentiated from amyotrophic lateral sclerosis. Response to treatment (benzodiazepines or carbamazepine) is good.
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PMID:[Muscle cramps and fasciculations not always ominous: muscle cramp-fasciculation syndrome]. 881 7

A 57-year-old man developed severe muscle weakness and atrophy of the upper extremities within a five-month period. Neurological examination revealed severe weakness and atrophy in the scapular muscles and proximal and distal muscles of the upper extremities. Fasciculations were also observed in the various muscles of the upper extremities. There was neither muscle weakness, atrophy nor fasciculation in either his face, neck muscles or lower extremities. He had no pseudobulbar or bulbar signs. Tendon reflexes were mildly hyperactive in the jaw and lower extremities, and normal in the upper extremities. There were no pathological reflexes, spasticity or sensory disturbances. The needle EMG study revealed denervation potentials in all muscles of the upper extremities examined. The nerve conduction study revealed no findings of the conduction block. Cervical spine X-rays revealed the narrowing of the spinal foramens at the left C3/C4 and bilateral C4/C5, C5/C6, and C6/C7 intervertebral levels. In addition, magnetic resonance imaging (MRI) revealed compressions of the cervical cord at C4/C5 and C5/C6 intervertebral levels. These clinical and neuroradiological findings resembled those of the cervical spondylotic amyotrophy (CSA). However, the motor evoked potential (MEP) study revealed the pyramidal tract dysfunction above the levels of the pyramidal decussation. Furthermore, brain MRI revealed abnormal foci in both internal capsules which were characterized by hyperintense relative to cortical gray matter on T2-weighted images and still hyperintense to white matter on proton-density-weighted images. In addition, T2-weighted images demonstrated a low signal within the motor cortex and hyperintense lesions in the white matter of the precentral gyri. These MRI findings indicated the degeneration of the pyramidal tract and corresponded to those found in the patients with amyotrophic lateral sclerosis (ALS) which have been recently reported. It has been difficult to distinguish ALS from CSA. However, MEP and brain MRI studies were useful for distinguishing these two diseases in this patient. In addition, this patient showed typical MRI findings suggesting the degeneration of the pyramidal tract, although this patient had a relatively short course of illness and did not show obvious physical findings suggesting pyramidal tract dysfunction.
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PMID:[The diagnosis of amyotrophic lateral sclerosis supported by motor evoked potential and brain MRI studies]. 921 23

We studied fasciculation potentials in amyotrophic lateral sclerosis (ALS), and in other neurogenic disorders, in strength and single-fiber electromyography-matched muscles. Benign fasciculations were studied in 3 normal subjects. Fasciculations were more stable and easier to recruit voluntarily in the early phase of ALS; later, fasciculations were more unstable, more complex, and less likely to be voluntarily recruited. Stable fasciculations, representing part of large, reinnervated motor units, and probably arising from distal axonal sprouts, usually had a higher firing rate than more complex and unstable fasciculations. In weak muscles in ALS, fasciculations were generally more unstable than in other neurogenic disorders. In normal-strength muscles fasciculations are less complex in ALS than in other disorders. Benign fasciculations have a high firing rate and normal morphologic parameters. In ALS fasciculations arise proximally early in the disease and distally in the later stages. Fasciculation may be important in excitotoxic cell death in ALS.
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PMID:Fasciculation potentials: a study of amyotrophic lateral sclerosis and other neurogenic disorders. 948 62

We report a 49-year-old man with progressive bulbar palsy and respiratory failure. He was well until his 48 years of the age (December 1994) when he noted a difficulty in speaking in loud voice. In February, 1995, he noted regurgitation of foods to his nose and difficulty in his speech. He was admitted to our service in May 29, 1995. On admission, he was alert and oriented to all spheres and he was not demented. His higher cerebral functions were normal. In cranial nerves, he showed dysarthria and dysphagia; muscle atrophies were seen in the tongue, the bilateral sternocleidomastoid, supraspinatus, and infraspinatus muscles. Fasciculations were seen in these muscles. He showed no muscle weakness in his limbs except for the upper limb girdle muscles, no ataxia, no reflex abnormalities, nor sensory changes. EMG showed neurogenic changes in the affected muscles. MRI of the brain and the spinal cord was entirely normal. He was discharged for out patient follow-up, however, in October of 1995, he noted difficulty in swallowing solid foods. Gastrostomy was placed and he was discharged to his home. In February 11th of 1996, he was found unresponsive and brought into the ER of our hospital. On admission, he was comatose without spontaneous respiration. BP could not be obtained. He was immediately intubated and artificial ventilation was started. On the following morning, he became alert and he was not demented. He continued to show marked dysarthria and dysphagia; again no weakness was noted in the distal parts of the upper and lower extremities. Laboratory examination showed increase in serum CK to 2,173 IU/L and amylase to 2,032 IU/L. He was extubated on February 15th, however, his spontaneous respiration was not suffice to maintain his blood gas. According to his will, he was not placed on respirator and he died on February 24th, 1996. The patient was discussed in a neurological CPC and the chief discussant arrived at the conclusion that the patient had ALS. Although no upper neuron signs were observed clinically, it is not uncommon to see degeneration in the corticospinal tract in post-mortem examination. The question was what might have been the cause of increase in CK and amylase. Many participants thought that they were secondary to multiple organ failure due to prolonged hypoxic state at his last admission; other possibilities raised included acute myocardial infarction and acute bowel necrosis. Post-mortem examination revealed muscle atrophy in the facial, lingual, cervical, intercostal, and the upper limb girdle areas. The lungs were unremarkable except for old organized pneumonic foci in the right middle and lower lobes. Marked to moderate congestion was seen in many internal organs, however, no other gross abnormality was found. It was thought that respiratory palsy itself was the direct cause of his agonal event. In the spinal cord, the anterior horns showed various degree of neuronal loss and gliosis. No clear evidence of pyramidal tract degeneration was seen at the light microscope level. Lower brain stem motor neurons were markedly reduced. But no Bunina body was found. The substantia nigra showed moderate degree of neuronal loss and extraneuronal neuromelanins. The locus coeruleus showed similar but milder changes. The degree of nigral degeneration appeared to be well beyond those which could be seen in usual ALS patients. The question was whether or not this patient might have been in an early stage of the extended form of ALS.
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PMID:[A 49-year-old man with progressive bulbar palsy and respiratory failure]. 949 5

Functional abnormalities, especially the excitability changes of axon in the peripheral nerve involvement, were reviewed. In GBS and CIDP, the correlation between conduction block and anti-ganglioside antibodies have been discussed. Using anti GM1 antibody positive sera, the suppression of voltage-gated sodium channels (VGSC) has been reported. Although this findings have not been confirmed, the involvement of VGSC may be an important mechanism for eliciting conduction block. In Isaacs' syndrome, voltage-gated potassium channels (VGKC) were suppressed by autoantibodies to VGKC. Furthermore, in generalized myokymia syndrome which shows only myokymia and muscle cramp without grip myotonia, VGKCs are also suppressed in some cases. These findings suggest that some patients with myokymia and neuromyotonia are induced by anti-VGKC antibodies. For evaluating the axonal excitability in vivo, the threshold electrotonus method have been developed and applied for the involvement of peripheral nerves. In ALS, impairment of potassium conductance was shown and was speculated to have the possible rrelation with fasciculation. Thus threshold electrotonus method will be an important method for evaluating axonal excitability in human. The accumulated knowledge about the involvement of axonal ion channels will expand and will be categorized as axonal channelopathies.
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PMID:[Impairment of peripheral nerve excitability]. 957 60

In normal subjects, the strength-duration time constant is longer for cutaneous afferents than for motor axons, probably because the former express a greater non-inactivating (persistent) Na+ conductance that is active at threshold. Using a threshold-tracking system the strength-duration properties of cutaneous afferents and motor axons were recorded from 23 patients with amyotrophic lateral sclerosis, and compared with those of 32 healthy subjects. In control subjects and patients, the strength-duration time constant of sensory fibres declined with age, and there was no difference between the two groups when age was taken into account. The motor time constant did not change with age when expressed as a percentage of the time constant for sensory fibres in the same nerve, but was significantly longer for the patients than control subjects. In addition, motor rheobase was significantly lower for the patients, when expressed as a percentage of sensory rheobase. There was an inverse relationship between the time constant and rheobase for sensory and motor axons, and this was the same for the patients and the control subjects, suggesting that the variations in time constant within and between the groups were related to the expression of a common factor. Measurements of refractoriness and supernormality provided no evidence for a difference in resting membrane potential between the patients and control subjects. These findings are consistent with the interpretation that motor axons of the patients with amyotrophic lateral sclerosis have a greater persistent Na+ conductance than normal motor axons. This could contribute to the ectopic activity responsible for fasciculation.
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PMID:Strength-duration properties of sensory and motor axons in amyotrophic lateral sclerosis. 961 89

We studied the clinical value of real time sonographic imaging of fasciculation in patients with neuromuscular diseases, which presented for 4 with amyotrophic lateral sclerosis (ALS), 2 with Kennedy-Alter-Sung syndrome, 1 with Kugelberg-Welander disease, and 1 with n-hexane neuropathy. The ultrasound image of fasciculation showed characteristic of each disease in several features. Analysis of sonographic image revealed that duration, size of fasciculation, and interval of fasciculation in Kennedy-Alter-Sung syndrome and Kugelberg-Welander disease, which is chronic progressive neuromuscular disorders, were longer than that in ALS, n-hexane neuropathy which are acute progressive disorders. We believe the fasciculation image may have significant implications with clinical course. Real time sonography offers a quantitative and qualitative means of investigating fasciculation and is effective to identify pathological information.
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PMID:[Real time sonographic imaging of fasciculation]. 971 Nov 26

Skeins or skein-like inclusions (SLIs) in motor neurons detected by ubiquitin immunohistochemistry are a characteristic finding of amyotrophic lateral sclerosis (ALS). Here we report ubiquitinated SLIs in the putamen and caudate nucleus from a case of ALS with dementia. A 48-year-old Japanese man developed apathy and amimia. Mental and neurological examinations revealed severe character change, muscle atrophy and fasciculation of the distal upper extremities and the tongue, and an exaggeration of the deep tendon reflex. He subsequently showed dysphagia and dysarthria. He died at the age of 51 years, after a total clinical course of about 2.5 years. By immunohistochemistry, ubiquitin-immunoreactive intraneuronal inclusions were observed in the spinal anterior horn cells, the frontal, temporal and entorhinal cortices, dentate fascia of the hippocampus and the amygdala. In addition, ubiquitinated inclusions were also seen in the putamen and caudate nucleus, which appeared as aggregates of thread-like structures similar to SLIs in the spinal anterior horn neurons. They were not seen on hematoxylin-eosin staining, and they also did not show any argentophilia nor did they react with other antibodies, including antibody against tau protein. To our knowledge, this is the first report of the presence of SLIs in non-motor neurons. Our results thus support the notion that ALS is a multisystem disease, and not simply a disease of the motor neurons.
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PMID:Skein-like inclusions in the neostriatum from a case of amyotrophic lateral sclerosis with dementia. 982 21


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