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)

Three cases of motor neuron disease (MND), in which neuropathological findings were atypical, are reported. The first case manifested widespread and severe degeneration of the spinal cord, as in spinal fibrosis. Case 2 revealed severe degeneration of the pyramidal tract with many spheroids, which made it difficult to differentiate from primary amyotrophic lateral sclerosis. The last case revealed degeneration of the nigro-pallido-luysian system, even though no clinical manifestation of extrapyramidal and/or cerebellar symptoms had been noted throughout the clinical course. In MND, degeneration might occur in various locations other than the motor system.
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PMID:Extrapyramidal system involvement in motor neuron disease. 151 45

Motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) often causes bulbar palsy with subsequent aspiration. Laryngeal diversion procedures are not commonly mentioned in the literature. However, they are viable but infrequently used surgical treatment options that have several advantages over a routine tracheostomy. We report a case of a 67-year-old man with MND/ALS and severe aspiration. He underwent a laryngeal diversion procedure with complete relief of signs and symptoms of aspiration. Laryngeal diversion, unlike tracheostomy, completely eliminates the possibility of aspiration as well as the need for suctioning. The primary disadvantage is complete loss of phonation. These procedures appear worthy of trial in patients with MND/ALS, and may ultimately be the preferred treatment in this setting.
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PMID:Laryngeal diversion in the treatment of intractable aspiration in motor neuron disease. 162 26

Although there are varied inheritance patterns in motor neuron disease (MND), the phenotype of MND is reported to be constant within these families, ie, cases of amyotrophic lateral sclerosis or primary lateral sclerosis do not occur in pedigrees with cases of spinal muscular atrophy. We describe four pedigrees whose members diverged in the phenotype of MND expressed. The intrafamilial variation of phenotype suggests a similar pathogenesis for some of the varied types of familial MND and the need for careful inquiry of family history in all patients with MND.
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PMID:Intrafamilial heterogeneity in hereditary motor neuron disease. 164 Nov 41

Antibodies to ubiquitin have been used to search for evidence of abnormal protein degradation in amyotrophic lateral sclerosis--motor neuron disease (ALS). Anterior horn cell ubiquitin-immunoreactive (IR) inclusions were present in all of 31 ALS cases but in none of 23 neurologically normal and in only 1 of 22 neurologically abnormal controls. These inclusions, which were present in familial and sporadic ALS cases, and in cases with dementia, took the form of dense rounded or irregular ubiquitin-IR cytoplasmic inclusions (dense bodies), or loosely arranged bundles ('skeins') of filamentous-appearing material. The presence of ubiquitin-IR inclusions corresponded to the pattern of selective neuronal vulnerability in ALS, although inclusions in pyramidal neurons of the motor cortex were infrequent and were noted in only a minority of cases. Ubiquitin-IR inclusions were more prevalent than Bunina bodies. The latter were present in 67% of ALS cases but were seldom labelled by antibodies to ubiquitin. Intraneuronal inclusions resembling Lewy bodies were present in 23% of ALS cases and were often identified by antibodies to ubiquitin. We conclude that the presence of ubiquitin-IR inclusions in lower motor neurons represents a characteristic pathological feature of ALS in its various clinical forms. Ubiquitin-IR inclusions in ALS differ from ubiquitinated inclusions in other neuronal degenerations in that they are not readily identified by antibodies to cytoskeletal proteins. They may represent accumulations of altered or abnormal neuronal proteins resistant to degradation via the ubiquitin proteolytic pathway.
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PMID:Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. 164 64

Several neurodegenerative diseases, including motor neuron disease (MND), are characterized by formation of abnormal cytoskeleton-derived inclusions which contain ubiquitin (Ubq). We have studied the distribution of Ubq in 26 cases of MND with light and electron microscopic immunocytochemistry. Ubiquitin-positive inclusions were found in neurons of anterior horns in most cases of amyotrophic lateral sclerosis (ALS) but were not present in other forms of MND. Ubiquitin immunoreactivity was observed in 10-15 nm intraneuronal filaments, which were not stained by antibodies to neurofilaments, and on dense bodies of dystrophic neurites throughout the neuropil of anterior horns and pyramidal tracts. Data analysis showed a trend toward lower percentage of Ubq-positive neurons in cases with longer duration of illness or lower number of neurons. A high percentage of Ubq-positive inclusions occurred in cases with an aggressive clinical course, suggesting that ubiquitination takes place at early stages of the disease.
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PMID:Ubiquitin in motor neuron disease: study at the light and electron microscope. 164 24

Skein-like inclusions (SLIs) in the anterior horn cells of patients with motor neuron diseases, including familial amyotrophic lateral sclerosis with posterior column degeneration, sporadic lower motor neuron disease and classical amyotrophic lateral sclerosis, were investigated morphologically with hematoxylin and eosin preparations, immunostaining for ubiquitin and immunoelectron microscopy. The SLIs were thready linear or tubular structures which immunostained with antiubiquitin antibodies. They were detected on hematoxylin and eosin preparations as eosinophilic thread-like structures often surrounded by pale areas. SLIs were occasionally present as networks of threads or tubules. Sometimes, they were aggregated and formed larger pale inclusions. Ultrastructurally, the SLIs were bundles of filaments which appeared thicker than neurofilaments. The SLIs tended to have central hollow spaces which were devoid of filaments. When the SLIs were clustered, fuzzy thick filaments were randomly and loosely arranged among the individual SLIs. The SLIs were histologically and ultrastructurally distinct from other inclusions such as Bunina bodies and hyaline inclusions. This unique morphology of SLIs may provide a novel perspective on the degenerative processes of the anterior horn cells in MND.
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PMID:Skein-like inclusions in the anterior horn cells in motor neuron disease. 166 4

There have been several reports concerning elevated glucose 6 phosphate dehydrogenase (G6PDH), the rate-limiting enzyme of pentose phosphate pathway (PPP), in experimental muscle disturbances. PPP produces ribose, a substrate of RNA, and NADPH which is a cofactor of fatty acid synthesis. PPP also has a role of by-path pathway of glycolysis. Then, we evaluated G6PDH activity and RNA content in biopsied quadriceps muscle. The subjects were muscles from 23 neurogenic amyotrophy, 54 myopathy including 19 progressive muscular dystrophy (PMD), and 10 controls whose muscle was obtained at orthopedic surgery. Neurogenic amyotrophy consisted of 12 amyotrophic lateral sclerosis (ALS), 4 spinal muscular atrophy and 7 peripheral nerve disorders. Myopathy were 3 Duchenne dystrophy, 2 congenital muscular dystrophy, 8 limb-girdle type dystrophy, 6 facio-scapular +-humeral muscular dystrophy, 6 myotonic dystrophy, 6 mitochondrial myopathy, 5 endocrinological myopathy, 3 hypokalemic myopathy, 8 polymyositis and 4 other inflammatory myopathy. The assays of G6PDH and RNA were performed after Glock's and Fleck's methods, respectively. The control values were 3.6 +/- 0.8 nmol formed NADPH/mg protein/min (M +/- SD) in G6PDH and 0.69 +/- 0.17 micrograms/mg non-collagen protein in RNA. Most cases of PMD, as well as some cases of ALS, hyperthyroidism, mitochondria hypokalemic myopathy, inflammatory myopathy showed increased values (beyond M + 2SD of control) both in G6PDH and RNA. There were significant positive correlations between G6PDH activity and RNA content in PMD and motor neuron disease. Myotonic dystrophy showed normal values in both G6PDH and RNA. Half number of cases of mitochondrial myopathy demonstrated increased G6PDH alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content]. 170 36

We investigated hyaline inclusion bodies (HI) immunocytochemically and ultrastructurally in six cases of sporadic motor neuron disease (MND). All HI contained large amounts of ubiquitin and some HI were stained at the core or the center with anti-neurofilament antibody, with the surrounding halo unstained. No HI were stained with antibodies raised against cytoskeletal proteins such as high-molecular weight microtubule-associated proteins and phosphorylated tau. Ultrastructurally, HI were chiefly composed of filaments measuring about 20 nm in diameter thicker than neurofilaments, and contained fine granules and frequently one or more of four characteristic profiles, i.e., small electron-dense materials resembling Bunina bodies, bundles of tubular filaments measuring approximately 20 nm in diameter, large electron-dense cores, and focal accumulations of randomly arranged neurofilaments. Hyaline inclusions can be regarded as one of the characteristic markers for sporadic MND as well as familial amyotrophic lateral sclerosis. Hyaline inclusions have a markedly heterogeneous ultrastructure and, therefore, differences in immunoreactivity with antineurofilament antibodies are not unexpected.
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PMID:Immunocytochemical and ultrastructural studies of hyaline inclusions in sporadic motor neuron disease. 172 68

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease. It is characterized by feelings of uncertainty and predictable crises points where difficult decisions have to be made by both the client and the family. These crises points involve progressive and sometimes sudden impairment in mobility, communication, nutrition and ultimately, respiratory function. This paper will use case analysis to illustrate the decisions that have to be made at each crisis point. A model will be presented that will focus on the nursing assessment of decision making behaviours of families experiencing the crisis of a debilitating illness. Emphasis will be on educating the client and family to anticipate what to expect and what decision making strategies they can use. In addition, recent literature will be presented that reviews nursing interventions designed to improve the quality of life of the client and family during these difficult time periods.
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PMID:ALS--decision making under uncertainty: a positive approach. 176 7

The authors report the case of a 32-year-old woman who developed symptoms and signs possible manifestations of a familial motor neuron disease with left sided pyramidal signs and marked wasting and weakness in the ipsilateral upper girdle, progressively extended to the contralateral upper limb. The CT-scan showed only frontal cortical atrophy. MRI disclosed a restricted area of increased signal intensity in the centrum semiovale of the subcortical white matter of the right prefrontal cortex. This young woman did not disclose any risk factors for cerebrovascular diseases nor other disorders of the CNS; therefore the authors are of the opinion that the white matter changes observed on MRI are not occasional findings, but are related to the pathologic process occurring in consequence of her neurodegenerative disorder (possible ALS).
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PMID:MRI findings in a patient with a familial form of motor neuron disease. 186 28


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