• Annals of Clinical Neurophysiology
• /
• 제7권2호
• /
• pp.133-137
• /
• 2005

Underlying neuropathies combined with amyotrophic lateral sclerosis (ALS) cast doubt on the diagnosis of ALS when present. Abnormal sural nerve conductions were found in 3 patients with clinically definite ALS. Pathologically demyelinating, axonal, or vasculitic neuropathy was suggested respectively. High dose oral corticosteroid had no effect and clinical courses were deteriorating in all the patients. The causes of combined neuropathies were unclear. Possibility of direct consequence of ALS, concomitant neuropathies, or rare variants of ALS should be considered in these cases.

• 생명과학회지
• /
• 제11권3호
• /
• pp.279-283
• /
• 2001

Amyotrophic lateral sclerosis(ALS) is a progressive neurologic disorder resulting from the degeneration of upper and lower motor neurons, and is inherited in 10% of cases. About 20% of familial ALS, clinically indistinguishable from sporadic ALS, is caused by mutations of Cu/Zn superoxide dismutase on chromosome 21q22.21 inherited as an autosomal dominant trait. We now report a new locus in the non-SOD1 dominantly inherited ALS. We screened a large ALS family with 11 affected individuals and one obligate gene carrier with genome-wide ABI polymorphic markers using the ABI 377 automated system. No evidence of linkage was obtained with the autosomal markers. We next screened this family with X chromosome markers as there was no evidence of male-to-male tran-smission of the disease. Linkage was established with several X chromosome markers with a lod score up to 3.8; almost the maximum possible score in this family. Our finding imply that a gene for the dominant expression of a neuronal degeneration is coded on X chromosome and raise the question of the role of X-linked genes that escape inactivation in this pathogenesis. More importantly, our finding that a gene causing ALS is localized on X-chromosome has direct investigational relevance to sporadic ALS, where epidemiological studies show male gender predominance(1.3:1) and earlier onset in men by 5-10 years.

• 대한간호학회지
• /
• 제38권6호
• /
• pp.802-812
• /
• 2008

Purpose: The purpose of this study was to identify and describe phenomenological structures of the lived experience of struggling against an illness for patients with Amyotrophic Lateral Sclerosis (ALS). Methods: The participants were 7 patients with ALS recruited by snowball sampling who agreed to participate in this research and could verbally communicated with the researcher. Data were collected by long term-repeated interviews with participants in their own homes. Data were analyzed using Colaizzi's method of phenomenology. Results: Four categories were extracted as follows: 'Being seized with fear of death', 'Living a marginal life', 'Accepting hard fate', and 'Clinging to faint life'. Seven theme clusters were identified as: 'Wandering to find a healing method with ominous signs in the body', 'Having a diagnosis of ALS is like a bolt from the blue and struggling against illness with faint hope', 'Being forced out to the edge of life with anguish', 'Filling one's heart with hatred and longing toward becoming estranged from the world', 'Living with stigma as a stumbling block with bitter grief in one's heart', 'Accepting every things as one's fate with self controlled fear of death', and 'Attaching to desire to live'. Conclusion: The results of this study can be used to develop the programs to support patients with ALS and their family.

• 재활간호학회지
• /
• 제16권2호
• /
• pp.122-132
• /
• 2013

Purpose: This study measured the quality of life in patients with amyotrophic lateral sclerosis (ALS). Methods: The participants consisted of consecutive patients with ALS who visited the neurology outpatient department from January to July, 2008. To collect the data, face-to-face interviews were applied at S national university hospital in Seoul. Using multivariate analysis, factors to predict QOL in ALS patients including demographic factors, functional independence, depression, anxiety, social support and quality of life were analyzed. Results: The final analysis included 69 patients. The mean score for the physical health and mental health components was $34.4{\pm}21.3$ and $44.7{\pm}20.6$, respectively. The mean score for the ALS functional rating scale was $24.3{\pm}10.8$ out of 40. Anxious and depressed patients accounted for 44.9% and 71%, respectively. Quality of life in ALS patients was significantly affected by functional independence, depression and anxiety level. Conclusion: To improve the quality of life in ALS patients with declining functional independence, comprehensive interventions are necessary to manage depression and anxiety.

• 대한치과마취과학회지
• /
• 제13권4호
• /
• pp.195-201
• /
• 2013

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease caused by the degeneration of upper and lower motor neurons. The disorder causes muscle weakness and atrophy in airway muscles including pharyngeal, laryngeal and other respiratory muscles. The response to muscle realxant is also altered in patients with ALS. Because of the inherent muscle weakness and associated respiratory insufficiency, particular attentions are needed in anesthetic management of ALS patients. We used proper doses of inhalation anesthetics and opioids under EEG-entropy (electroencephalography-entropy)-monitoring without the use of muscle realxants in the anesthetic management of a patient with ALS. The patient early recovered and was discharged on the same day without any respiratory complications.

• Journal of Yeungnam Medical Science
• /
• 제39권3호
• /
• pp.181-189
• /
• 2022

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition characterized by loss of motor neurons, resulting in motor weakness of the limbs and/or bulbar muscles. Pain is a prevalent but neglected symptom of ALS, and it has a significant negative impact on the quality of life of patients and their caregivers. This review outlines the epidemiology, clinical characteristics, underlying mechanisms, and management strategies of pain in ALS to improve clinical practice and patient outcomes related to pain. Pain is a prevalent symptom among patients with ALS, with a variable reported prevalence. It may occur at any stage of the disease and can involve any part of the body without a specific pattern. Primary pain includes neuropathic pain and pain from spasticity or cramps, while secondary pain is mainly nociceptive, occurring with the progression of muscle weakness and atrophy, prolonged immobility causing degenerative changes in joints and connective tissue, and long-term home mechanical ventilation. Prior to treatment, the exact patterns and causes of pain must first be identified, and the treatment should be tailored to each patient. Treatment options can be classified into pharmacological treatments, including nonsteroidal anti-inflammatory drugs, antiepileptic drugs, drugs for cramps or spasticity, and opioid; and nonpharmacological treatments, including positioning, splints, joint injections, and physical therapy. The development of standardized and specific assessment tools for pain-specific to ALS is required, as are further studies on treatments to reduce pain, diminish suffering, and improve the quality of life of patients with ALS.

• BMB Reports
• /
• 제55권12호
• /
• pp.621-626
• /
• 2022

Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease characterized by the degeneration of motor neurons in the spinal cord. Main symptoms are manifested as weakness, muscle loss, and muscle atrophy. Some studies have reported that alterations in sphingolipid metabolism may be intimately related to neurodegenerative diseases, including ALS. Acid sphingomyelinase (ASM), a sphingolipid-metabolizing enzyme, is considered an important mediator of neurodegenerative diseases. Herein, we show that ASM activity increases in samples from patients with ALS and in a mouse model. Moreover, genetic inhibition of ASM improves motor function impairment and spinal neuronal loss in an ALS mouse model. Therefore, these results suggest the role of ASM as a potentially effective target and ASM inhibition may be a possible therapeutic approach for ALS.

• 대한중풍순환신경학회지
• /
• 제13권1호
• /
• pp.77-85
• /
• 2012

Amyotrophic lateral sclerosis(ALS) is a progressive disorder that causes degeneration of motor neurons of the brain and spinal cord. It is characterized by loss of motor neurons leading to muscle weakness, and sensation and mental function stay intact during the course of the disease. Diagnostic tests include magnetic response imaging(MRI), electromyogram(EMG), muscle biopsy, and blood tests. In order to a definitive diagnosis of ALS, damage must be evident in both upper and lower motor neurons. When three limbs are sufficiently affected, the diagnosis is ALS. There is no cure for ALS. We experienced one case of ALS, the patients was diagnosed as ALS by EMG and symptoms. We diagnosed her as ShinEumHur(SEH) and treated by Choakwiyeum(左歸飮). We report the change of her symptoms through oriental medical treatment.

• BMB Reports
• /
• 제50권11호
• /
• pp.535-536
• /
• 2017

A novel approach has been used to identify functional interactions relevant to human disease. Using high-throughput human-yeast genetic interaction screens, a first draft of disease interactome was obtained. This was achieved by first searching for candidate human disease genes that confer toxicity in yeast, and second, identifying modulators of toxicity. This study found potentially disease-relevant interactions by analyzing the network of functional interactions and focusing on genes implicated in amyotrophic lateral sclerosis (ALS), for example. In the subsequent proof-of-concept study focused on ALS, similar functional relationships between a specific kinase and ALS-associated genes were observed in mammalian cells and zebrafish, supporting findings in human-yeast genetic interaction screens. Results of combined analyses highlighted MAP2K5 kinase as a potential therapeutic target in ALS.

• Annals of Clinical Neurophysiology
• /
• 제19권2호
• /
• pp.136-140
• /
• 2017

A 77-year-old male with amyotrophic lateral sclerosis had a hypoxic event. After resuscitation, generalized myoclonus appeared and resolved after two days. Five days after the hypoxic event, myoclonic seizures re-emerged right after performing a somatosensory evoked potential and persisted for ten days. Electroencephalogram revealed frequent bi-hemispheric synchronous spike and waves in the central areas. We suggest that somatosensory evoked potential testing may trigger myoclonic status epilepticus. Underlying cortical degeneration associated with amyotrophic lateral sclerosis could attribute to this phenomenon.