Excessive daytime sleepiness in Chinese patients with sporadic amyotrophic lateral sclerosis and its association with cognitive and behavioural impairments

2018 ◽  
Vol 89 (10) ◽  
pp. 1038-1043 ◽  
Author(s):  
Shuangwu Liu ◽  
Yan Huang ◽  
Hongfei Tai ◽  
Kang Zhang ◽  
Zhili Wang ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinical Features ◽  
Excessive Daytime Sleepiness ◽  
Daytime Sleepiness ◽  
Rating Scale ◽  
Chinese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Cross Sectional ◽  
Wake Patterns ◽  
Lateral Sclerosis

ObjectiveTo examine the frequency and clinical features of excessive daytime sleepiness (EDS) and its association with cognitive and behavioural impairments in patients with amyotrophic lateral sclerosis (ALS).MethodsWe conducted a cross-sectional investigation to explore the frequency and clinical features of EDS in a group of 121 Chinese patients with ALS compared with 121 age-matched and sex-matched healthy subjects. EDS was diagnosed using the Epworth Sleepiness Scale (ESS). Other characteristics of patients with ALS including sleep quality, REM sleep behaviour disorder (RBD), restless legs syndrome (RLS), cognition, behaviour, depression and anxiety were also evaluated.ResultsEDS was significantly more frequent in patients with ALS than in controls (26.4% vs 8.3%; p<0.05). Patients with ALS with EDS scored lower scores on the revised ALS Functional Rating Scale (ALSFRS-R), Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCA) and MMSE and MoCA delayed memory subitems and higher on the Frontal Behavioural Inventory (FBI) than patients with ALS without EDS. ESS scores correlated with global ALSFRS-R, FBI, MMSE and MoCA scores and MMSE and MoCA delayed memory scores. RLS and global ALSFRS-R scores were independently associated with EDS in patients with ALS.ConclusionsWe identified a high frequency of EDS symptoms in Chinese patients with ALS, and these patients might have more serious physical, cognitive and frontal behaviour impairment. Patients with ALS might improve quality of life from the timely recognition and optimised management of EDS symptoms. Our results further suggest that ALS is a heterogeneous disease that might exhibit abnormal sleep-wake patterns.

Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis

2016 ◽  
Vol 38 ◽  
pp. 217.e15-217.e22 ◽  
Author(s):  
Yongping Chen ◽  
Ziqiang Lin ◽  
Xueping Chen ◽  
Bei Cao ◽  
Qianqian Wei ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Chinese Patients ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Repeat Expansions ◽  
Lateral Sclerosis

scholarly journals SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

2018 ◽  
Vol 146 (11-12) ◽  
pp. 646-652
Author(s):  
Milos Brkusanin ◽  
Irena Jeftovic-Velkova ◽  
Vladimir Jovanovic ◽  
Stojan Peric ◽  
Jovan Pesovic ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Copy Number ◽  
Rating Scale ◽  
Cox Regression ◽  
Diagnostic Delay ◽  
Susceptibility Genes ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Cox Regression Analysis ◽  
Sporadic Als ◽  
Lateral Sclerosis

Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes. Two ALS susceptibility genes are SMN1, whose functional loss causes spinal muscular atrophy (SMA), and a nearly identical SMN2 gene, which modulates SMA severity. In this study we examined the association of copy number variations (CNVs) of SMN1 and SMN2 genes and two additional genes, SERF1 and NAIP, residing in the same genomic region (i.e. 5q13.2 segmental duplication), with SALS in patients from Serbia. Methods. Multiplex ligation-dependent probe amplification was used to determine CNVs of each gene in a clinically well-characterised group of 153 Serbian SALS patients and 153 controls. Results. Individual association between SMN1, SMN2, SERF1 or NAIP CNVs and SALS susceptibility or survival was not found. Survival curves based on the multivariable Cox regression analysis showed that three SMN1 copies, lower ALS Functional Rating Scale Revised (ALSFRS-R) score at the time of diagnosis, faster decline of the ALSFRS-R score over time, and shorter diagnostic delay result in shorter survival of Serbian SALS patients. Conclusion. Clinical variables might be complemented with the SMN1 copy number to improve prediction of survival in Serbian SALS patients.

scholarly journals Blood–Brain Barrier Disruption Is Not Associated With Disease Aggressiveness in Amyotrophic Lateral Sclerosis

2021 ◽  
Vol 15 ◽  
Author(s):  
Tino Prell ◽  
Benjamin Vlad ◽  
Nayana Gaur ◽  
Beatrice Stubendorff ◽  
Julian Grosskreutz
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Blood Brain Barrier ◽  
Rating Scale ◽  
Cross Sectional Study ◽  
Brain Barrier ◽  
Cross Sectional ◽  
Blood Brain Barrier Disruption ◽  
Progression Model ◽  
Blood Brain ◽  
Lateral Sclerosis

The pathogenesis of the fatal neurodegenerative condition amyotrophic lateral sclerosis (ALS) remains to be fully understood. Blood–brain barrier damage (BBBD) has been implicated as an exacerbating factor in several neurodegenerative conditions, including ALS. Therefore, this cross-sectional study used the novel D50 progression model to assess the clinical relevance of BBBD within a cohort of individuals with either ALS (n = 160) or ALS mimicking conditions (n = 31). Routine laboratory parameters in cerebrospinal fluid (CSF) and blood were measured, and the ratio of CSF to serum albumin levels (Qalb) was used as a proxy measure of BBBD. In the univariate analyses, Qalb levels correlated weakly with disease aggressiveness (as indicated by individual D50 values) and physical function (as measured by ALS Functional Rating Scale). However, after adjustment for cofactors in the elastic net regularization, only having limb-onset disease was associated with BBBD. The results reported here emphasize the clinical heterogeneity of ALS and the need for additional longitudinal and multi-modal studies to fully clarify the extent and effect of BBBD in ALS.

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.

Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis

2009 ◽  
Vol 276 (1-2) ◽  
pp. 163-169 ◽  
Author(s):  
Naoki Atsuta ◽  
Hirohisa Watanabe ◽  
Mizuki Ito ◽  
Fumiaki Tanaka ◽  
Akiko Tamakoshi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinical Features ◽  
Age At Onset ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals The Impact of Lifetime Alcohol and Cigarette Smoking Loads on Amyotrophic Lateral Sclerosis Progression: A Cross-Sectional Study

Life ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 352
Author(s):  
Aliona Cucovici ◽  
Andrea Fontana ◽  
Andrei Ivashynka ◽  
Sergio Russo ◽  
Valentina Renna ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Alcohol Consumption ◽  
Cigarette Smoking ◽  
Multicenter Study ◽  
Alcohol Drinking ◽  
Rating Scale ◽  
Progression Rate ◽  
Cross Sectional ◽  
The Impact ◽  
Lateral Sclerosis

Background—Amyotrophic lateral sclerosis (ALS) is a devastating and untreatable motor neuron disease; smoking and alcohol drinking may impact its progression rate. Objective—To ascertain the influence of smoking and alcohol consumption on ALS progression rates. Methods—Cross-sectional multicenter study, including 241 consecutive patients (145 males); mean age at onset was 59.9 ± 11.8 years. Cigarette smoking and alcohol consumption data were collected at recruitment through a validated questionnaire. Patients were categorized into three groups according to ΔFS (derived from the ALS Functional Rating Scale-Revised and disease duration from onset): slow (n = 81), intermediate (80), and fast progressors (80). Results—Current smokers accounted for 44 (18.3%) of the participants, former smokers accounted for 10 (4.1%), and non-smokers accounted for 187 (77.6%). The age of ALS onset was lower in current smokers than non-smokers, and the ΔFS was slightly, although not significantly, higher for smokers of >14 cigarettes/day. Current alcohol drinkers accounted for 147 (61.0%) of the participants, former drinkers accounted for 5 (2.1%), and non-drinkers accounted for 89 (36.9%). The log(ΔFS) was weakly correlated only with the duration of alcohol consumption (p = 0.028), but not with the mean number of drinks/day or the drink-years. Conclusions: This cross-sectional multicenter study suggested a possible minor role for smoking in worsening disease progression. A possible interaction with alcohol drinking was suggested.

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