Sleep disorders in Amyotrophic Lateral Sclerosis

2021 ◽  
Vol 2 (4) ◽  
Author(s):  
Sireesha Murala ◽  
Nakul Katyal ◽  
Naureen Narula ◽  
Raghav Govindarajan ◽  
Pradeep Sahota
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Sleep Disorders ◽  
Neurodegenerative Disorder ◽  
Wide Spectrum ◽  
Sleep Related Breathing Disorders ◽  
Breathing Disorders ◽  
Behavioral Abnormalities ◽  
Obstructive Sleep ◽  
Als Patients ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting both the central and peripheral nervous system. The median survival rate for ALS patients after symptom onset is 2.5 to 3.5 years and after diagnosis of ALS is about 1.5 to 2.5 years. Patients with ALS can have a wide spectrum of sleep disorders including but not limited to insomnia, sleep related breathing disorders, parasomnias, obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH). Sleep-related breathing disorders substantially increase both morbidity and mortality in ALS patients. In this review, we have discussed the ALS motor symptoms, sleep-related breathing disorders, behavioral abnormalities and sleep disturbing factors which impair the health-related quality of life.

scholarly journals Cognitive dysfunction in amyotrophic lateral sclerosis: can we predict it?

2021 ◽  
Author(s):  
Fabiola De Marchi ◽  
◽  
Claudia Carrarini ◽  
Antonio De Martino ◽  
Luca Diamanti ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Time Course ◽  
Neurodegenerative Disorder ◽  
Early Stage ◽  
Multisystem Disorder ◽  
Behavioral Impairment ◽  
Behavioral Impairments ◽  
Als Patients ◽  
Disease Stages ◽  
Lateral Sclerosis

Abstract Background and aim Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by the degeneration of both upper and lower motoneurons in the brain and spinal cord leading to motor and extra-motor symptoms. Although traditionally considered a pure motor disease, recent evidences suggest that ALS is a multisystem disorder. Neuropsychological alterations, in fact, are observed in more than 50% of patients: while executive dysfunctions have been firstly identified, alterations in verbal fluency, behavior, and pragmatic and social cognition have also been described. Detecting and monitoring ALS cognitive and behavioral impairment even at early disease stages is likely to have staging and prognostic implications, and it may impact the enrollment in future clinical trials. During the last 10 years, humoral, radiological, neurophysiological, and genetic biomarkers have been reported in ALS, and some of them seem to potentially correlate to cognitive and behavioral impairment of patients. In this review, we sought to give an up-to-date state of the art of neuropsychological alterations in ALS: we will describe tests used to detect cognitive and behavioral impairment, and we will focus on promising non-invasive biomarkers to detect pre-clinical cognitive decline. Conclusions To date, the research on humoral, radiological, neurophysiological, and genetic correlates of neuropsychological alterations is at the early stage, and no conclusive longitudinal data have been published. Further and longitudinal studies on easily accessible and quantifiable biomarkers are needed to clarify the time course and the evolution of cognitive and behavioral impairments of ALS patients.

scholarly journals Utility of phrenic nerve ultrasound in amyotrophic lateral sclerosis

2020 ◽  
Author(s):  
Cezar Thomas Suratos ◽  
Naoko Takamatsu ◽  
Hiroki Yamazaki ◽  
Yusuke Osaki ◽  
Tatsuya Fukumoto ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Phrenic Nerve ◽  
Rating Scale ◽  
Neurodegenerative Disorder ◽  
Pulmonary Function Tests ◽  
Cross Sectional ◽  
The Right ◽  
Als Patients ◽  
Lateral Sclerosis

Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting the upper and lower motor neurons causing progressive weakness. It eventually involves the diaphragm which leads to respiratory paralysis and subsequently death. Phrenic nerve (PN) conduction studies and diaphragm ultrasound has been studied and correlated with pulmonary function tests in ALS patients. However, PN ultrasonography has not been employed in ALS. This study aims to sonographically evaluate the morphologic appearance of the PN of ALS patients. Thirty-eight ALS patients and 28 normal controls referred to the neurophysiology laboratory of two institutions were retrospectively included in the study. Baseline demographic and clinical variables such as disease duration, ALS Functional Rating Scale-Revised score, and ALS region of onset were collected. Ultrasound was used to evaluate the PN cross-sectional area (CSA) of ALS and control subjects. The mean PN CSA of ALS patients were 1.08 ± 0.39 mm on the right and 1.02 ± 0.34 mm on the left. The PN CSA of ALS patients were significantly decreased compared to controls (p value < 0.00001). The PN CSA of ALS patients was not correlated to any of the demographic and clinical parameters tested. This study demonstrates that ALS patients have a smaller PN size compared to controls using ultrasonography.

scholarly journals Pain in Amyotrophic Lateral Sclerosis: A Neglected Aspect of Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
Chalonda R. Handy ◽  
Christina Krudy ◽  
Nicholas Boulis ◽  
Thais Federici
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Viral Vectors ◽  
Neurodegenerative Disorder ◽  
Respiratory Dysfunction ◽  
Clostridial Neurotoxins ◽  
Reduction Of Pain ◽  
Als Patients ◽  
Number Of Individuals ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder marked by progressive loss of motor neurons, muscle wasting, and respiratory dysfunction. With disease progression, secondary symptoms arise creating new problematic conditions for ALS patients. Amongst these is pain. Although not a primary consequence of disease, pain occurs in a substantial number of individuals. Yet, studies investigating its pathomechanistic properties in the ALS patient are lacking. Therefore, more exploratory efforts into its scope, severity, impact, and treatment should be initiated. Several studies investigating the use of Clostridial neurotoxins for the reduction of pain in ALS patients suggest the potential for a neural specific approach involving focal drug delivery. Gene therapy represents a way to accomplish this. Therefore, the use of viral vectors to express transgenes that modulate the nociceptive cascade could prove to be an effective way to achieve meaningful benefit in conditions of pain in ALS.

Progesterone and cortisol levels in sporadic amyotrophic lateral sclerosis (sALS): correlation with prognostic factors

2011 ◽  
Vol 6 (1) ◽  
Author(s):  
Gisella Gargiulo Monachelli ◽  
Maria Meyer ◽  
Gabriel Rodríguez ◽  
Laura Garay ◽  
Roberto E. Sica ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Prognostic Factors ◽  
Neurodegenerative Disorder ◽  
Neuronal Damage ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Sporadic Als ◽  
Bulbar Onset ◽  
Als Patients ◽  
Short Time ◽  
Lateral Sclerosis

AbstractAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder. Worse prognostic factors in ALS are: (a) advanced age, (b) bulbar onset, and (c) short time between onset and diagnosis. Progesterone (PROG) has been associated with neuroprotective and promyelinating activities in injury, ischemia and degeneration of the central and peripheral nervous system. Cortisol is connected to the response to stress situations and could contribute to neuronal damage. The goals of this study were: (i) to investigate whether PROG levels are modified by ALS prognostic factors and (ii) to determine whether cortisol follows the same pattern. We determined serum steroid levels in 27 patients with sporadic ALS (sALS) and 21 controls. Both steroid hormones showed significantly increased levels in ALS patients versus controls (mean±SEM: PROG ALS vs. control: 0.54±0.05 vs. 0.39±0.04 ng/mL, p<0.05; cortisol ALS vs. control: 17.02±1.60 vs. 11.83±1.38 μg/dL, p<0.05).

Ice Bucket At First…and then? – Psychopathology in Amyotrophic Lateral Sclerosis Patients and their Caregivers, a Review

2016 ◽  
Vol 33 (S1) ◽  
pp. S529-S529
Author(s):  
A.R. Figueiredo ◽  
V. Espírito Santo ◽  
R. Almendra ◽  
A. Costa
Keyword(s):  
Social Support ◽  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Neurodegenerative Disorder ◽  
Psychological Adaptation ◽  
Well Being ◽  
Negative Effect ◽  
Competing Interest ◽  
Als Patients ◽  
Lateral Sclerosis

IntroductionAmyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disorder that affects motor neurons in the cerebral cortex, brainstem and spinal cord. The progressive loss of motor function creates profound changes on patient's lives and their caregivers.ObjectiveAssessment of eventual existence of psychopathology in ALS patients and their caregivers.MethodsLiterature review using the terms: ALS, Amyotrophic Lateral Sclerosis, psychopathology, psychiatric disorder; depression; anxiety, caregivers.ResultsModerate depressive or anxious symptoms are often observed. The results are not consistent, some studies showing that major depression is less common that in general population, others that is mildly increased. Some studies show that depressive symptoms are related to poorer QoL and with faster disease progression, others suggests no correlations. Coping strategies, cognitive appraisal and social support are important factors to psychological adaptation to ALS. After the diagnosis, high levels of anxiety can be observed. Psychopathological features are observed at this time, and generally depression does not increase as death approaches. Beyond loss of physical functions, it seems that patients’ neurobehavioral symptoms, such as aggressiveness, disinhibition and impulsivity, cognitive impairment, and also lack of social support have a negative effect on caregivers’ mental health. Concordance between patient and caregiver distress was found.ConclusionsIt is important to assess potential psychological distress in ALS patients and their caregivers, given that cope with disease can affect its course. Caregivers’ needs should be addressed, to benefit their well-being and consequently patients’ QoL. There are few studies about psychopharmacotherapy and/or psychotherapy in these patients.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Monozygotic twin pairs discordant for amyotrophic lateral sclerosis carry both common and unique epigenetic differences relevant to disease

2016 ◽  
Author(s):  
Paul E Young ◽  
Stephen Kum Jew ◽  
Michael E Buckland ◽  
Roger Pamphlett ◽  
Catherine M Suter
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Large Scale ◽  
Cytosine Methylation ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Monozygotic Twin ◽  
Sporadic Als ◽  
High Heritability ◽  
Als Patients ◽  
Lateral Sclerosis

AbstractAmyotrophic lateral sclerosis (ALS) is a devastating late-onset neurodegenerative disorder in which only a small proportion of patients carry an identifiable causative genetic lesion. Despite high heritability estimates, a genetic etiology for most sporadic ALS remains elusive. Here we report the epigenetic profiling of five monozygotic twin pairs discordant for ALS in whom previous genome sequencing excluded a genetic basis for their disease discordance. By studying cytosine methylation patterns in peripheral blood DNA we identified thousands of large between-twin differences at individual CpGs. While the specific sites of difference were largely idiosyncratic to a twin pair, a proportion (involving GABA signalling) were common to all affected individuals. In both instances the differences occurred within genes and pathways related to neurobiological function and dysfunction. Our findings reveal widespread changes in epigenetic marks in ALS patients, consistent with an epigenetic contribution to disease. These findings may be exploited to develop blood-based biomarkers of ALS and develop further insight into disease pathogenesis. We expect that our findings will provide a useful point of reference for further large scale studies of sporadic ALS.

scholarly journals Cortical Thinning of Motor and Non-Motor Brain Regions Enables Diagnosis of Amyotrophic Lateral Sclerosis and Supports Distinction between Upper- and Lower-Motoneuron Phenotypes

Biomedicines ◽  
2021 ◽  
Vol 9 (9) ◽  
pp. 1195
Author(s):  
Stefano Ferrea ◽  
Frederick Junker ◽  
Mira Korth ◽  
Kai Gruhn ◽  
Torsten Grehl ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Temporal Lobe ◽  
Cortical Thickness ◽  
Neurodegenerative Disorder ◽  
Brain Regions ◽  
Precentral Gyrus ◽  
Healthy Controls ◽  
Cortical Thinning ◽  
Als Patients ◽  
Lateral Sclerosis

Background: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder clinically characterized by muscle atrophy and progressive paralysis. In addition to the classical ALS affecting both the upper and lower motoneurons (UMN and LMN), other subtypes with the predominant (or even exclusive) affection of the UMN or LMN have been identified. This work sought to detect specific patterns of cortical brain atrophy in the UMN and LMN phenotypes to distinguish these two forms from the healthy state. Methods: Using high-resolution structural MRI and cortical thickness analysis, 38 patients with a diagnosis of ALS and predominance of either the UMN (n = 20) or the LMN (n = 18) phenotype were investigated. Results: Significant cortical thinning in the temporal lobe was found in both the ALS groups. Additionally, UMN patients displayed a significant thinning of the cortical thickness in the pre- and postcentral gyrus, as well as the paracentral lobule. By applying multivariate analyses based on the cortical thicknesses of 34 brain regions, ALS patients with either a predominant UMN or LMN phenotype were distinguished from healthy controls with an accuracy of 94% and UMN from LMN patients with an accuracy of 75%. Conclusions: These findings support previous hypothesis that neural degeneration in ALS is not confined to the sole motor regions. In addition, the amount of cortical thinning in the temporal lobe helps to distinguish ALS patients from healthy controls, that is, to support or discourage the diagnosis of ALS, while the cortical thickness of the precentral gyrus specifically helps to distinguish the UMN from the LMN phenotype.

Contemporary Concepts in the Diagnosis and Management of Obstructive Sleep Apnea

2021 ◽  
pp. 1-17
Author(s):  
Rajasekar Arumugam
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Sleep Disorders ◽  
Sleep Disturbances ◽  
Wide Spectrum ◽  
Well Being ◽  
Comprehensive Overview ◽  
Sleep Related Breathing Disorders ◽  
Surgical Interventions ◽  
Obstructive Sleep

Optimal sleep is an inseparable component of both physical and psychological well-being. With the widespread increase in the prevalence of sleep disorders, there has been an immense interest among the global researchers in exploring the molecular biology of sleep and innovative modalities for diagnosing and treating sleep disorders. Notably, sleep disorders encompass a wide spectrum of sleep disturbances with potential multisystem complications. Polysomnography is an overnight sleep study that is widely considered as the gold standard objective diagnostic method for diagnosing obstructive sleep apnea (OSA) and provision of continuous positive airway pressure (CPAP), which maintains airway patency during sleep remains the cornerstone therapy for OSA. Although CPAP remains the mainstay of therapy for OSA, various oral appliances and surgical interventions have widely been considered for OSA. This chapter provides a comprehensive overview of contemporary diagnostic and therapeutic approaches available in clinical practice for sleep-related breathing disorders with particular emphasis on OSA.

Sleep disorders

2018 ◽  
Author(s):  
Lawrence J. Epstein
Keyword(s):  
Sleep Disorders ◽  
Sleep Apnoea ◽  
Behaviour Disorder ◽  
Sleep Wake Disorders ◽  
Sleep Related Breathing Disorders ◽  
Breathing Disorders ◽  
Sleep Behaviour ◽  
Obstructive Sleep ◽  
Broad Array ◽  
The Individual

Over 70 described sleep disorders disrupt the sleep of an estimated 50–70 million Americans. The disorders present with a broad array of symptoms but result in the individual not getting the health, cognitive, and restorative benefits of a good night’s sleep. The disorders have been categorized into the following categories: insomnia, sleep-related breathing disorders, central disorders of hypersomnolence, circadian rhythm sleep–wake disorders, parasomnias, and sleep-related movement disorders. This chapter reviews each category and provides details on the symptoms, pathophysiology, and treatment of the most common disorder in each category, including insomnia, obstructive sleep apnoea, narcolepsy, restless legs syndrome, and REM sleep behaviour disorder. The presenting complaint is the key to diagnosis, directing subsequent evaluation.

scholarly journals Two Potential Biomarkers Identified in Mesenchymal Stem Cells and Leukocytes of Patients with Sporadic Amyotrophic lateral Sclerosis

2012 ◽  
Vol 32 (4) ◽  
pp. 211-220 ◽  
Author(s):  
Henny Nachmany ◽  
Shane Wald ◽  
Michal Abekasis ◽  
Shlomo Bulvik ◽  
Miguel Weil
Keyword(s):  
Stem Cells ◽  
Amyotrophic Lateral Sclerosis ◽  
Mesenchymal Stem Cells ◽  
Neurodegenerative Disorder ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Transcriptional Level ◽  
Qrt Pcr ◽  
Als Patients ◽  
Lateral Sclerosis ◽  
Potential Biomarkers

Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disorder caused by degeneration of motor neurons. The cause for most cases of ALS is multi-factorial,this enhances the need to characterize and isolate specific biomarkers found in biological samples from ALS patients. To this end we use human mesenchymal stem cells (hMSC) derived from the bone marrow of six ALS patients (ALS hMSC) and identified two genes, Cytoplasmic FMR Interacting Protein 2 (CyFIP2) and Retinoblastoma (Rb) Binding Protein 9 (RbBP9) with a significant decrease in post transcriptional A to I RNA editing compared to hMSC of healthy individuals. At the transcriptional level we show abnormal expression of these two genes in ALS hMSC by quantitative real time-PCR (qRT-PCR) and Western blot suggesting a problem in the regulation of these genes in ALS. To strengthen this view we tested by qRT-PCR the expression of these genes in peripheral blood leukocytes (PBL) isolated from blood samples of 17 ALS patients and found that CyFIP2 and RbBP9 levels of expression were significantly different compared to the levels of expression of these two genes in 19 normal PBL samples. Altogether we found two novel ALS potential biomarkers in non-neural tissues from ALS patients that may have direct diagnostic and therapeutic implications to the disease.

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