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)

During the years of study of amyotrophic lateral sclerosis on Guam we have observed a wide range in clinical signs and rate of progression of the disease. Some patients died within 6 months of onset, while others have lived for 20 years. It was our assumption that some aspects of the early neurologic involvement would be related to length of survival, and hence be of prognostic value. We found that an early age at onset and male sex were associated with longer survival. The detailed analysis of degree of involvement of four major neurologic components of amyotrophic lateral sclerosis (progressive muscular atrophy, lateral sclerosis, bulbar paralysis, and pseudobulbar palsy) showed no meaningful pattern of association with duration of illness that could be useful in predicting the course.
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PMID:Predicting the duration of Guam amyotrophic lateral sclerosis. 116 36

A 36-year-old man developed motor neuron signs consisting of weakness and atrophy of the right upper limb, which progressed to involve the other limbs along with development of upper motor neuron signs including pseudobulbar palsy. He died 8.5 years after onset. Bilateral precentral gyri and putamina were grossly atrophic. In addition to severe degeneration of bilateral pyramidal tracts and marked neuronal cell loss of the precentral gyri and putamina, basophilic inclusions were widely distributed in the motor cortex, putamina, general somatic motor neurons such as the hypoglossal nucleus and spinal anterior horns, and other areas like the red nucleus and inferior olive. The inclusions were clearly shown with Nissl stain to be anilinophilic irregular masses with distinct rims. Ultrastructurally the inclusions appeared to consist of thick filamentous structures of 12-25 nm in diameter studded with electron-dense ribosome-like granules. Thick filamentous profiles were relatively short or occasionally fragmentary, haphazardly mingled with various amounts of granules and other organelles. No prominent accumulation of 10-nm neurofilaments or eosinophilic inclusions like Bunina bodies were found. The inclusions were indistinguishable from those reported in so-called "juvenile" amyotrophic lateral sclerosis.
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PMID:An adult-onset case of sporadic motor neuron disease with basophilic inclusions. 170 86

Cricopharyngeal myotomy has been used in the treatment of pharyngoesophageal diverticulum and various neurogenic, myogenic and myoneurogenic disorders. An appreciable number of patients with pseudobulbar palsy due to cerebrovascular accidents and patients with idiopathic hypertrophy of the cricopharyngeal muscle will greatly benefit from this procedure. This paper describes the indications for, and results of, 20 consecutive cricopharyngeal myotomies carried out with or without diverticulectomy. All 20 patients experienced cervical esophageal dysphagia and 55% had substantial weight loss. The most valuable investigation is roentgenography of the pharynx and esophagus, which will confirm megapharynx, hypopharyngeal stasis, weak or absent pharyngeal contractions and regurgitation. Hypertrophic cricopharyngeal muscle was demonstrated in 9 of the 20 patients. The diagnostic value of endoscopy and esophageal manometry is limited. The results were considered excellent in all patients with pharyngoesophageal diverticulum and idiopathic hypertrophy of the cricopharyngeal muscle. Marked symptomatic and objective improvement was achieved in patients with cerebrovascular accidents, vagal injuries and amyotrophic lateral sclerosis. However, the result was poor in patients with myoneurogenic disorders.
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PMID:Cricopharyngeal myotomy. 629 86

In this paper, the autopsy findings of a 78-year-old man mimicking primary lateral sclerosis (PLS) are reported. His clinical symptoms were slowly progressive spasticity, pseudobulbar palsy and character change. He died of sepsis 32 months after protracting the disease. The autopsy revealed severe atrophy of the frontal and temporal lobes. The histological findings were severe neuronal loss with gliosis in the precentral gyrus and left temporal lobe tip, loss of Betz cell, prominent demyelination throughout of the corticospinal tract, axonal swelling in the cerebral peduncule, severe degeneration of the amygdala, mild degeneration of the Ammon horn, normal substantia nigra, a few neuronal cells with central chromatolysis in the facial nerve nucleus and very mild neuronal cell loss in the spinal anterior horn. The anterior horn cell only occasionally demonstrated Bunina body by H & E and cystatin-C stainings, as well as, skein-like inclusion by ubiquitin staining. Thus, this is a case of uncommon amyotrophic lateral sclerosis (ALS) dominantly affecting the upper motor neuron including the motor cortex and temporal limbic system. In analysis of nine cases of putative primary lateral sclerosis in the literature, six cases showed loss of Betz cell in the precentral gyrus, and four cases very mild involvement of the lower motor neuron such as central chromatolysis and eosinophilic inclusion body. Degeneration of the limbic system was observed in two cases. We indicated a possible subgroup with concomitant involvement in the motor cortex and temporal lobe in motor neuron disease dominantly affecting the upper motor neuron.
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PMID:[An autopsied case of dominantly affecting upper motor neuron with atrophy of the frontal and temporal lobes--with special reference to primary lateral sclerosis]. 761 64

A 26-year-old housewife, born of consanguineous parentage, began to have gait and speech disturbance. Her brother had died from suffocation because of dysphagia. At thirty-two, she developed difficulty in swallowing, clumsiness and incontinence. When she was thirty-six she had pseudobulbar palsy, vertical gaze paresis, hyperreflexia and muscular atrophy of the upper half of the body. CT scan showed cerebral atrophy. Her mental function progressively deteriorated and amyotrophic lateral sclerosis associated with dementia was suspected. She died at the age of thirty-seven. Diagnosis was made only by autopsy. There was no particular general pathologic finding excepting aspiration pneumonia. Microscopical examination revealed numerous distended neurons with accumulation of light brown pigments by Luxol fast blue/H & E stains, especially in hypothalamus, substantia nigra and nuclei of oculomotor nerves. To a lesser extent such neurons were noted ubiquitously. The stored material was mainly composed of lipofuscin and ceroid. Ultrastructurally they presented the various structures which have previously been reported, except for finger print profiles. The pigmentary deposits were shown to be immunoreactive with polyclonal antibody directed against amyloid beta-protein.
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PMID:[Dementia and amyotrophy in Kufs disease. The adult type of neuronal ceroid lipofuscinosis]. 774 8

Emotional lability may be a part of the syndrome of pseudobulbar palsy. Here we report our experience with fluvoxamine, a selective serotonin reuptake inhibitor, used to treat 10 patients with emotional incontinence. Over a 7-month period, we studied and treated 10 consecutive patients (mean age, 61 +/- 8 years) attending our department: four had amyotrophic lateral sclerosis (progressive bulbar palsy form), four had clinically definite multiple sclerosis, and two had had strokes. They were given a single evening dose (100 mg) of fluvoxamine. All 10 patients had > 30 affective outbursts daily. It was observed that in 2 to 6 days, all the patients improved, the number of emotional outbursts dropping to none to five per day. This result suggests that the serotoninergic system may be implicated in emotional lability. The short latency of improvement we observed in our patients suggests that the mechanism of fluvoxamine for treating emotional lability differs from its mechanism for treating affective disorders.
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PMID:Pharmacologic treatment of emotional lability. 893 93

To clarify the diagnostic value of corneomandibular reflex (CMR) in ALS, the authors examined the prevalence of CMR and other pathologic reflexes in 42 patients with ALS and 110 patients with stroke. A total of 30 of 42 ALS patients had positive CMR. Compared with the patients with hemiparesis or pseudobulbar palsy after stroke, the ALS patients showed a significantly higher frequency of CMR but no other pathologic reflexes. CMR is a sensitive indicator of upper motor neuron involvement in ALS.
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PMID:Corneomandibular reflex in ALS. 1033 5

ALS-Plus syndrome occurs rarely and usually presents typical ALS phenotype associated with dementia, Parkinsonism or both. We reported a case of sporadic, definite ALS with pseudobulbar palsy, emotional lability and selective cognitive deficit in the presence of frontal lobe dementia. Neuropsychological tests predominantly demonstrated perserveration and dynamic apraxia, CT and MRI scans showed widened subarachnoideal spaces in the frontal and temporal regions. The neuropathological findings confirmed ALS processes i.e. atrophy of motor nuclei in brainstem and anterior horns of cervical spinal cord and showed mild atrophy and status spongiosus in the frontal lobes. These findings suggest the co-occurrence of sporadic ALS and frontal lobe dementia: ALS-Plus syndrome.
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PMID:ALS-Plus syndrome. A clinical and neuropathological case study. 1124 90

We report the autopsy findings of an 82-year-old woman who exhibited slowly progressive upper motor neuron signs (pseudobulbar palsy, muscle weakness and positive Babinski's sign) in the absence of lower motor neuron signs, which were followed by progressive dementia and frontotemporal atrophy, and who died 7 years and 4 months after onset of the disease. In this patient, the upper motor neuron system, including the precentral cortex and descending pyramidal tract, was severely degenerated, but the lower motor neurons and innervated skeletal muscles were well preserved. A few lower motor neurons were found to contain cytoplasmic inclusion bodies characteristic of amyotrophic lateral sclerosis (i.e., Bunina bodies and ubiquitin-positive skeins). However, fragmentation of the Golgi apparatus was not evident in the anterior horn cells examined. Therefore, it was considered that the lower motor neurons were also involved, but that the rate of degeneration of these neurons was very slow in the disease process. Marked frontotemporal lobar degeneration characterized by microvacuolation, and ubiquitin-positive neuronal inclusions and dystrophic neurites in cortical layer II were also observed, the precentral cortex being the most severely affected area. Similar ubiquitin-positive structures were also observed in the neostriatum. Finally, a survey of the literature based on this patient's clinical and pathological features led us to conclude that the rare clinical syndrome of primary lateral sclerosis is, in general, a rare upper-motor-predominant form of amyotrophic lateral sclerosis that is often accompanied by frontotemporal lobar degeneration with ubiquitinated neuronal inclusions.
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PMID:Primary lateral sclerosis: a rare upper-motor-predominant form of amyotrophic lateral sclerosis often accompanied by frontotemporal lobar degeneration with ubiquitinated neuronal inclusions? Report of an autopsy case and a review of the literature. 1273 67

We report a 59-year-old woman with generalized amyotrophy and dementia. She showed personality change at 53 years of age. When she was 56 years old, she began to show abnormal and violent behaviors. At age 58, she developed dysphagia and amyotrophy of upper limbs. She was admitted to a hospital for the treatment of aspiration pneumonia. She was severely demented and showed pseudobulbar palsy, amyotrophy of tongues, weakness of upper limbs, and pyramidal signs. She was still able to walk by herself. Dementia, pseudobulbar palsy, and amyotrophy progressed rapidly. At age 59, she became bed ridden and required tube feeding. She died by aspiration pneumonia at age 59. The patient was discussed at a neurological CPC and the chief discussant arrived at the conclusion that the patient had ALS dementia. Other possibility discussed was Pick's disease with amyotrophy. Post-mortem examination revealed severe lower motor neuron degeneration. The upper motor neurons were unaffected. Neuronal loss was not observed in the cerebral cortex, but moderate gliosis was seen in the cerebral white matter. In addition, the substantia nigra was moderately degenerated. There were ubiquitin positive neuronal inclusions in the granular cells of the dentate gyrus. Also, Bunina bodies were seen in the neurons of spinal anterior horns. These findings were characteristic pathology for ALS with dementia.
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PMID:[A 59-year-old woman with personality change and abnormal behavior followed by amyotrophy and dementia]. 1624 71


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