scispace - formally typeset
Search or ask a question

Showing papers on "Amyotrophic lateral sclerosis published in 1985"


Journal ArticleDOI
TL;DR: The serious implications of the diagnosis of ALS make it mandatory to exclude similar potentially treatable disorders.
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative disease of the motor system in adults that occurs in sporadic, familial, and Western Pacific forms. Involvement of non-motor pathways has been increasingly recognized, both clinically and pathologically. Although the usual course is relentlessly progressive with death in half the cases within three years from onset, it can sometimes be protracted. Degeneration and loss of large motor neurons in the cerebral cortex, brainstem, and cervical and lumbar spinal cord are characteristic. Marked reduction in the number of large myelinated fibers is notable in the cervical and lumbar ventral roots. Peripheral nerves show reduced numbers of large myelinated fibers, acute axonal degeneration at all levels, and distal axonal atrophy. Motor end-plates reveal small or absent nerve terminals. Subclinical non–motor system involvement includes neuronal loss in Clarke's nucleus and dorsal root ganglia, degeneration of non-motor tracts in the spinal cord, loss of receptors in the dorsal horns of the spinal cord, and myelinated fiber loss with segmental demyelination in sensory and mixed nerves. The serious implications of the diagnosis of ALS make it mandatory to exclude similar potentially treatable disorders. Management should be multidisciplinary, and discussions with the patient and family members should be frank and frequent. Discussions about ventilatory support should take place early in the disease so that death from respiratory failure can be prevented, when that is desired, and conversely to obviate the discontent and anger that accompany involuntary life on a ventilator.

369 citations


Journal ArticleDOI
TL;DR: A relatively high proportion of patients with amyotrophic lateral sclerosis with onset of the disease with bulbar signs suffered from malignant tumour, but with no association with any specific tumour.
Abstract: All identified Israeli patients with amyotrophic lateral sclerosis (ALS) with onset of the disease from 1959 through 1975 (n = 318) were evaluated clinically. Most of our patients (63%) presented with weakness; only 10% presented with atrophy and 3% with fasciculations. In 31% of the cases, the onset of the disease was focal and 22% of the patients presented with bulbar signs, but only 6 patients presented with emotional lability (pseudo-bulbar). Twelve per cent of the patients presented with muscle cramps, pain or paraesthesia. Atypical signs such as motor cranial nerve lesion, dementia, sphincter disturbance and deep sensation loss are discussed. A relatively high proportion of our patients suffered from malignant tumour, but with no association with any specific tumour. The median survival time was 3 years. Patients with onset of their disease with bulbar signs had a shorter life expectancy (2.2 years): Twenty nine per cent of our patients survived for more than 5 years and 16% for more than 10 years.

190 citations


Journal ArticleDOI
TL;DR: The pathogenesis of the motor neuronal degeneration in amyotrophic lateral sclerosis (ALS) is unclear, though several possible etiological factors are currently being investigated.
Abstract: The pathogenesis of the motor neuronal degeneration in amyotrophic lateral sclerosis (ALS) is unclear, though several possible etiological factors are currently being investigated. A unifying hypothesis will have to explain the diverse geographical occurrence, clinical features, and selective vulnerability and relative resistance of different neuronal populations in the disease. It is possible that different biochemical defects underlie this diversity, or alternatively that the many factors incriminated in the etiology may act upon an underlying genetic-biochemical abnormality to trigger premature neuronal death. Viruses, metals, endogenous toxins, immune dysfunction, endocrine abnormalities, impaired DNA repair, altered axonal transport, and trauma have all been etiologically linked with ALS, but convincing research evidence of a causative role for any of these factors is yet to be demonstrated.

154 citations


Journal ArticleDOI
TL;DR: The authors' results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage.
Abstract: Fibroblast and/or lymphoblastoid lines from patients with several inherited primary neuronal degenerations are hypersensitive to DNA-damaging agents. Therefore, lymphoblastoid lines were irradiated from patients with sporadic Parkinson's disease (PD), Alzheimer's disease, and amyotrophic lateral sclerosis. The mean survival values of the eight Parkinson's disease and of the six Alzheimer's disease lines, but not of the five amyotrophic lateral sclerosis lines, were less than that of the 28 normal lines. Our results with Parkinson's disease and Alzheimer's disease cells can be explained by a genetic defect arising as a somatic mutation during embryogenesis, causing defective repair of the X-ray type of DNA damage. Such a DNA repair defect could cause an abnormal accumulation of spontaneously occurring DNA damage in Parkinson's disease and Alzheimer's disease neurons in vivo, resulting in their premature death.

104 citations


Journal ArticleDOI
J.R. Daube1
TL;DR: Combinations of needle electromyography, nerve conduction studies, and other techniques can not only confirm the diagnosis or identify the presence of unsuspected disease, but can also provide clues to the rate of progression and prognosis.

64 citations


Journal ArticleDOI
TL;DR: Evidence that the disease process in ALS extends beyond the motor cortex and involves neurons in several brain areas is constituted, including ganglioside patterns in the frontal, temporal, and parahippocampal cortex.
Abstract: In a search for evidence of biochemical disorders in regions of postmortem brain other than the motor cortex in amyotrophic lateral sclerosis (ALS), ganglioside patterns were also examined in the frontal, temporal, and parahippocampal gyrus cortex. In 21 ALS brains studied (20 sporadic, 1 familial), abnormal patterns were found in the frontal cortex (81%), temporal cortex (75%), motor cortex (70%), and parahippocampal gyrus cortex (71%). Patterns were established by measuring the percentage distribution of 12 ganglioside species. Two abnormal patterns were detected. One was based on low proportions of GD1b, GT1b, and GQ1b associated with high proportions of GM2 and GD3 (GM1, GD1a, GD2, and GT1a values were normal). The second abnormality was the appearance of Gx. Neither abnormality was seen in the 13 non-ALS control brains. The first, and predominant, abnormality was found in the frontal cortex in 14 brains, and the second was observed in 13 brains; 10 brains showed both abnormalities. These findings thus constitute evidence that the disease process in ALS extends beyond the motor cortex and involves neurons in several brain areas.

50 citations


Journal ArticleDOI
27 Jul 1985-BMJ
TL;DR: Even in the most severe forms of motor neurone disease--progressive bulbar palsy and amyotrophic lateral sclerosis--the symptoms and disabilities from progressive paralysis may be relieved in many patients by various symptomatic treatments.
Abstract: Even in the most severe forms of motor neurone disease--progressive bulbar palsy and amyotrophic lateral sclerosis--the symptoms and disabilities from progressive paralysis may be relieved in many patients by various symptomatic treatments. Quality of life may be improved even in the terminal stage, when narcotic administration should be considered. The physician's proper role is to offer and carefully supervise these treatments, not withhold them. Home care is recommended even for the most severely paralysed, though hospice care may be a good alternative. The underlying principle--to alleviate symptoms--applies to the management of all progressive incurable diseases.

47 citations


Journal ArticleDOI
TL;DR: Clinical and pathologic findings in a 34-year-old woman with basal ganglia degeneration and amyotrophic lateral sclerosis are reported, indicating that an association with pallido-luyso-nigral atrophy may represent more than a coincidental occurrence.
Abstract: The clinical and pathologic findings in a 34-year-old woman with basal ganglia degeneration and amyotrophic lateral sclerosis are reported. The duration of symptoms was 2 years. A maternal uncle had a parkinsonian syndrome with onset at 45 years of age. Neuropathologic examination revealed extensive neuronal loss and gliosis in the corpus Luysii. Nerve cell loss and gliosis also involved both parts of the globus pallidus, and the substantia nigra. The corticospinal tracts were demyelinated in the spinal cord, and neuronal loss was observed in the anterior horns. Only one similar case of pallido-luyso-nigral atrophy associated with amyotrophic lateral sclerosis has, to our knowledge, been reported previously. Such an association may represent more than a coincidental occurrence.

45 citations


Journal ArticleDOI
TL;DR: Findings suggest common involvement of somatosensory pathways in MND, either at cortical or subcortical levels, and correlate with neuropathologic reports of neuronal degeneration beyond the primary motor system.
Abstract: We studied median somatosensory evoked potentials (SEPs) in an unselected series of 30 patients with sporadic motor neuron disease (MND). SEPs were affected in 17 patients (57%), with a higher incidence of abnormality in amyotrophic lateral sclerosis and bulbar palsy than in progressive muscular atrophy. In a majority of patients, simultaneous bilateral stimulation of the median nerve revealed a delay or absence of scalp-recorded central N32 and/or N60, leaving the earlier peaks intact. In the remaining cases, the N19 peak was asymmetrically prolonged. These findings suggest common involvement of somatosensory pathways in MND, either at cortical or subcortical levels, and correlate with neuropathologic reports of neuronal degeneration beyond the primary motor system.

41 citations


Patent
23 Aug 1985
TL;DR: In this article, the discovery that amyotrophic lateral sclerosis (ALS), Parkinson disease and Alzheimer disease are due to lack of a disorder-specific neurotrophic hormone was made, which is accomplished by assaying hormones specific for a particular neuronal network or system.
Abstract: The present invention is based on the discovery that amyotrophic lateral sclerosis (ALS), Parkinson disease and Alzheimer disease are due to lack of a disorder-specific neurotrophic hormone. Diagnosis is accomplished by assaying hormones specific for a particular neuronal network or system: the motor neurotrophic hormones from muscle in the motor neural system are used to diagnose and treat ALS, dopamine neurotrophic hormones from striatum in the nigrostriatal neural system are used to diagnose and treat parkinsonism, and cholinergic neurotrophic hormones released from the cortex and hippocampus which are specific for cholinergic neurons of the nucleus basalis and septal nucleus are used to diagnose and treat Alzheimer's disease. With tissue culture, the presence or absence of specific neurotrophic hormones can be assessed in ALS, parkinsonism, and Alzheimer disease. If there is a deficiency, extracted and purified neurotrophic hormones specific to the particular neuronal network or system can be injected in ALS and Alzheimer disease and in parkinsonism.

38 citations


Journal ArticleDOI
TL;DR: The neuropathological examination corroborated the diagnosis of amyotrophic lateral sclerosis, and showed a preponderance of lesions in the phrenic nuclei and axonal alterations associated with a fast evolution.
Abstract: A 59-year-old man presented with dyspnoea, hypersomnia followed by acute respiratory failure necessitating mechanical ventilation. There were no signs of cardiopulmonary disease and on the first few days, extubation was impossible. Further neurological evaluation supported the diagnosis of amyotrophic lateral sclerosis. The neuropathological examination corroborated this diagnosis, and showed a preponderance of lesions in the phrenic nuclei and axonal alterations associated with a fast evolution.

Journal ArticleDOI
TL;DR: Six patients with amyotrophic lateral sclerosis given from 800 to 4000 μg of thyrotropin-releasing hormone intrathecally for a period of 2–6 months supported the hypothesis that the decrease in TRH content in the anterior horn region is secondary to the cellular destruction.
Abstract: Six patients with amyotrophic lateral sclerosis were given from 800 to 4000 μg of thyrotropin-releasing hormone (TRH) intrathecally for a period of 2–6 months. The progressive course of this disease, manifested by increasing atrophy, paralysis and disability score, was not altered. This supports the hypothesis that the decrease in TRH content in the anterior horn region is secondary to the cellular destruction. TRH appears to play no significant role in the pathogenesis of amyotrophic lateral sclerosis

Journal ArticleDOI
TL;DR: It is suggested that abnormal SEPs need not exclude a diagnosis of ALS, based on the present case and a review of the literature.

Patent
23 Aug 1985
TL;DR: In this article, the discovery that amyotrophic lateral sclerosis (ALS), Parkinson disease and Alzheimer disease are due to lack of a disorder-specific neurotrophic hormone was made, which can be accomplished by assaying hormones specific for a particular neuronal network or system.
Abstract: The present invention is based on the discovery that amyotrophic lateral sclerosis (ALS), Parkinson disease and Alzheimer disease are due to lack of a disorder-specific neurotrophic hormone. Diagnosis is accomplished by assaying hormones specific for a particular neuronal network or system: the motor neurotrophic hormones from muscle in the motor neural system are used to diagnose and treat ALS, dopamine neurotrophic hormones from striatum in the migrostriatal neural system are used to diagnose and treat parkinsonism, and cholinergic neurotrophic hormones released from the cortex and hippocampus which are specific for cholinergic neorons of the nucleus basalis and septal nucleus are used to diagnose and treat Alzheimer's disease. With tissue culture, the presence or absence of specific neurotrophic hormones can be assessed in ALS, parkinsonism, and Alzheimer disease. If there is a deficiency, extracted and purified neurotrophic hormones specific to the particular neuronal network or system can be injected in ALS and Alzheimer disease and in parkinsonism.

Journal ArticleDOI
TL;DR: This case illustrates a previously undescribed concurrence of hyperthyroid associated polyneuropathy and pyramidal tract dysfunction that led to an initial clinical diagnosis of amyotrophic lateral sclerosis.

Journal Article
TL;DR: Diagnosis between limb-girdle myopathy and chronic spinal amyotrophy (irregular and atrophic muscles without selective involvement and hypertrophic muscles) is tentatively proposed but is not considered to be clear-cut.

Journal ArticleDOI
01 Jan 1985
TL;DR: A 68-year-old male had the characteristic clinical features of progressive dementia accompanied by motor neuron disease and a neuropathological review of 20 similar cases reported in Japan is discussed and the possibility of a new disease entity for these cases is suggested.
Abstract: A 68-year-old male had the characteristic clinical features of progressive dementia accompanied by motor neuron disease. The duration of his illness was 26 months. The chief findings from light microscopic studies were: diffue neuronal degeneration characterized by a simple atrophy and a mild disappearance of nerve cells throughout the CNS. Status spongiosus was observed in the basal ganglia. There were lesions similar to those of a motor neuron disease in the brain stem and spinal cord. Although there were no clinical symptoms of an extrapyramidal disease, severe involvement was seen in the substantia nigra. This patient belongs to the same group of cases of presenile dementia with motor neuron disease described by the author. A neuropathological review of 20 similar cases reported in Japan is discussed and the possibility of a new disease entity for these cases is suggested.

Journal ArticleDOI
TL;DR: In animals with an ascorbic acid deficiency, histopathology of muscles and spinal cord were also prevented by l -cysteine, l -methionine and l -hydroxyproline, and subcutaneous haemorrhages were not prevented by these supplements.



Journal ArticleDOI
TL;DR: CT-documentation of skeletal muscular lesions caused by neuromuscular diseases implies an essential contribution to conventional techniques in the macroscopic field and size, distribution and degree of lesions as well as compensatory mechanisms are proved thereby.
Abstract: CT-documentation of skeletal muscular lesions caused by neuromuscular diseases implies an essential contribution to conventional techniques in the macroscopic field. Size, distribution and degree of lesions as well as compensatory mechanisms are proved thereby. We report about the different effects on muscle appearance referring to 106 patients of our own experience in amyotrophic lateral sclerosis, spinal muscular atrophy, poliomyelitis, polyradiculitis, polyneuropathy as well as peripheral traumatic nerve lesions.

Journal ArticleDOI
TL;DR: Four enzyme activities related to glucose metabolism were estimated in posterior root ganglion cells of the spinal cord in patients suffering from olivopontocerebellar atrophy, amyotrophic lateral sclerosis, ALS, and Duchenne muscular dystrophy by means of the NAD, NADP and CoA cycling methods.


Journal ArticleDOI
TL;DR: When adults present with muscle weakness as the predominant symptom and sign, the causes can usually be narrowed down to four disorders: amyotrophic lateral sclerosis, Guillain-Barré syndrome, myasthenia gravis, and inflammatory myopathy.
Abstract: When adults present with muscle weakness as the predominant symptom and sign, the causes can usually be narrowed down to four disorders: amyotrophic lateral sclerosis, Guillain-Barre syndrome, myasthenia gravis, and inflammatory myopathy. Perhaps the most difficult task for the clinician is identifying which of these patients are actually weak and which are describing generalized fatigue. This task should be made easier by keeping in mind the definition of muscle weakness--a loss of power resulting in reduction of motor function--and by performing careful functional muscle testing.



Journal ArticleDOI
TL;DR: The case reported here seems to confirm the outcome of epidemiological research: the association with prostatic carcinoma is fortuitous.
Abstract: Non metastatic neurological concomitants of tumors are well known. They include an amyotrophic lateral sclerosis (ALS)-like syndrome in association with various tumors. The association with prostatic carcinoma is very rare. The case reported here seems to confirm the outcome of epidemiological research: the association is fortuitous.