Showing papers on "Amyotrophic lateral sclerosis published in 1971"
TL;DR: It is essential to recognize the heterogeneity among the spinal muscular atrophies when giving a prognosis and for genetic counselling.
Abstract: In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited diseases in which there is degeneration of the anterior horn cells (lower motor neurones) of the spinal cord and often the bulbar motor nuclei, but with no evidence of pyramidal tract involvement. When so defined, motorneurone disease (progressive bulbar palsy, progressive muscular atrophy, and amyotrophic lateral sclerosis) and its variants and the various forms of amyotrophy are excluded as are congenital abnormalities of the spinal cord, and traumatic, toxic, infective, and neoplastic causes of anterior horn cell degeneration. Early literature on the spinal muscular atrophies has been extensively reviewed by Wiesendanger (1962); Smith and Patel (1965); HausmanowaPetrusewicz (1970); and Namba, Aberfeld, and Grob (1970). The frequency of all forms of spinal muscular atrophy is at least 1 in 20,000 (Brandt, 1950a) and possibly very much more. The 'wobbler' mutant of mouse is a possible analogue (Duchen, Strich, and Falconer, 1968). The main clinical features of spinal muscular atrophy are wasting and weakness of muscles supplied by the affected anterior horn cells. Necropsy confirmation of degeneration and loss of anterior horn cells has been reported both in severe (Brandt, 1950a) and more benign (Kohn, 1968; Namba et al, 1970) forms of spinal muscular atrophy. It is essential to recognize the heterogeneity among the spinal muscular atrophies when giving a prognosis and for genetic counselling. Unfortunately early attempts to classify them were largely unsatisfactory for two reasons. Firstly, because such classifications were often based on clinical features
160 citations
TL;DR: Twenty-one members of a family through four generations have experienced a syndrome similar to amyotrophic lateral sclerosis, with additional features of sensory loss and prolonged course, which consistently began with leg weakness, followed by arm and bulbar weakness, with signs of both upper and motor neuron degeneration.
Abstract: Twenty-one members of a family through four generations have experienced a syndrome similar to amyotrophic lateral sclerosis, with additional features of sensory loss and prolonged course. Five patients were examined, two of whom had glove and stocking distribution of sensory impairment. Autopsy on one showed demyelination and gliosis in the spinocerebellar tracts and in Goll's tracts of the posterior columns in addition to similar changes and loss of cells in the anterior horns. The average course lasted more than 11 years. Two other cases presented as progressive muscular atrophy without signs of spasticity. All other cases consistently began with leg weakness, followed by arm and bulbar weakness, with signs of both upper and motor neuron degeneration. The mode of transmission was autosomal dominant with complete penetrance.
41 citations
TL;DR: Defects in central dopamine metabolism, inferred from these tests applicable to the living patient, evidently may attend neurologic disorders which are unresponsive to precursor loading with levodopa.
Abstract: Cerebrospinal fluid (CSF) levels of homovanillic acid (HVA), a major catabolite of dopamine, were substantially less in 21 patients with amyotrophic lateral sclerosis (ALS) than in 19 controls. There was also a significant reduction in the probenecid-induced accumulation of HVA in the CSF of ALS patients as compared with control subjects. Since probenecid inhibits the efflux of HVA from the central nervous system, the results suggest that central dopamine synthesis may be diminished in ALS. A therapeutic trial of levodopa, the immediate precursor of dopamine, in ten ALS patients failed to improve motor function. Defects in central dopamine metabolism, inferred from these tests applicable to the living patient, evidently may attend neurologic disorders which are unresponsive to precursor loading with levodopa.
33 citations
TL;DR: The possible etiology of ALS and PD, the relationship between these two conditions, the risk of acquiring these diseases among non-Chamorros who resided on Guam, and considerations as to whether the form of ALS which appears among the indigenous Chamorro population of Guam differs from this disease in other parts of the world are discussed.
Abstract: STUDIES OF AMYOTROPHIC LATERAL SCLEROSIS (ALS) and parkinsonism-dementia (PD) of Guam have produced much information of value to the neurological community over the past twenty years, but many of the basic questions relating to the remarkable concentration of these diseases remain unanswered. Advances in virological and biochemical techniques and the long years of study appear to be leading us to the point where some of the problems will be resolved. In this paper, we shall present recent neuropathologic observations and discuss the status of several long-term studies which we hope will eventually contribute information concerning the many questions posed by the Guam riddle. We will discuss the possible etiology of ALS and PD, the relationship between these two conditions, the risk of acquiring these diseases among non-Chamorros who resided on Guam, and considerations as to whether the form of ALS which appears among the indigenous Chamorro population of Guam differs from this disease in other parts of the world.
31 citations
TL;DR: A double-blind study is set up to establish the effectiveness of the drug, which had the added advantage of having relatively little toxicity in man and being attractive as a potential form of therapy for ALS.
Abstract: AMYOTROPHIC LATERAL SCLEROSIS (ALS) is a chronic, progressive, fatal neurological disease primarily involving motor neurons. Patients with this disease develop profound muscular weakness with spasticity and atrophy.1 Recent interest in slow virus diseases has demonstrated that some neurological disorders previously considered degenerative have an infectious etiology.* Although no viral or slow viral process reproduces ALS, this etiology is still possible and has been discussed re~ent ly .~ Preliminary studies on isoprinosine*-NPT10381, the paracetamidobenzoic acid salt of inosine dimethylaminoisopropanol-suggested a general antiviral activity.4 Antiviral activity was found against both deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) viruses. Biochemical data indicated that a modification of host polyribosomes might be responsible for the antiviral activities. Furthermore, the agent was found to have significant effects on the learning behavior in rats.5 A conformational change was detected in brain polyribosomes in treated animals so that age-altered polyribosomes resembled the polyribosomes from young, normal rats. Because of this unusual combination of properties, this agent seemed attractive as a potential form of therapy for ALS. It had the added advantage of having relatively little toxicity in man.6 Rumors of its effectiveness in two patients had appeared in the paramedical journals and in the lay press. It seemed desirable to set up a double-blind study to establish the effectiveness of the drug. Since the disease is progressive and the pathology presumably irreversible, moral issues were involved in a double-blind study. If some participants did not receive the medication,
23 citations
TL;DR: Values for both these monoamine catabolites in patients with ALS consistently fell between those of PD patients and controls, suggesting that a substantial reduction in the synthesis of both dopamine and serotonin may attend PD and ALS of Guam.
Abstract: Changes in cerebrospinal fluid (CSF) levels of homovanillic acid (HVA), a major catabolite of dopamine and of 5-hydroxyindoleacetic acid (5-HIAA), the principle product of serotonin degradation, were compared in Guamanian parkinsonism-dementia (PD) and amyotrophic lateral sclerosis (ALS) patients with Guamanian and North American control subjects during the administration of probenecid. The rise of both HVA and 5-HIAA was significantly less in PD patients than in control subjects. Values for both these monoamine catabolites in patients with ALS consistently fell between those of PD patients and controls. Since probenecid inhibits the efflux of HVA and 5-HIAA from CSF, these results suggest that a substantial reduction in the synthesis of both dopamine and serotonin may attend PD and ALS of Guam.
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TL;DR: Pancreatic exocrine function and intestinal absorption tests were performed in 8 patients with amyotrophic lateral sclerosis and none of the patients studied showed any evidence of pancreaticExocrine dysfunction.
Abstract: Pancreatic exocrine function and intestinal absorption tests were performed in 8 patients with amyotrophic lateral sclerosis. Contrary to preliminary reports, none of our patients studied showed any evidence of pancreatic exocrine dysfunction.
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TL;DR: Some entities of progressive motor impairment are most clearly identified in the oral area, and most of them are characterized by critical disabilities in the Oral and pharyngeal areas.
Abstract: Some entities of progressive motor impairment are most clearly identified in the oral area, and most of them are characterized by critical disabilities in the oral and pharyngeal areas. The continued muscular fasciculation in amyotrophic lateral sclerosis, for example, is readily visible at the surface of the tongue. Simple manual tests are useful in evaluating the muscles of the mandible, hyoid and tongue.