scholarly journals Amyotrophic Lateral Sclerosis and Multiple Sclerosis: More Evidence Suggesting a Link

2021 ◽  
Vol 2 (3) ◽  
Author(s):  
Kristyn Pocock ◽  
Idil Baysal ◽  
James Scanlan ◽  
Michael Elliott ◽  
Angeli Mayadev
Keyword(s):  
Multiple Sclerosis ◽  
Amyotrophic Lateral Sclerosis ◽  
Laboratory Data ◽  
Prevalence Rates ◽  
Genetic Etiology ◽  
Expected Frequency ◽  
C9orf72 Mutation ◽  
Lateral Sclerosis ◽  
Demographic Features ◽  
Shared Genetic

Objectives Previous reports of the concurrence of multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) in the same patients suggest shared pathogenesis, with the C9orf72 mutation as a possible shared genetic link. Methods: Symptoms, neuroimaging, and laboratory data were summarized for patients with ALS and MS within our ALS registry.  Using age adjusted MS prevalence rates, we calculated the expected co-occurrence using the binomial test.  Results: Clinical and demographic features of the five patients (four female, one male) with ALS and MS are described.  Because ALS more frequently occurs in men, observing 4/5 female patients with concurrent ALS/MS showed a borderline expectation difference (P=0.073).  The observed co-occurrence of ALS and MS was 5X times higher than the expected frequency of 0.98 (P <0.004).  Four patients were found negative for C9orf72. Discussion: Our results suggest a non-random association between MS and ALS, although shared genetic etiology was not found.

scholarly journals No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

2013 ◽  
Vol 23 (7) ◽  
pp. 1916-1922 ◽  
Author(s):  
A. Goris ◽  
J. van Setten ◽  
F. Diekstra ◽  
S. Ripke ◽  
N. A. Patsopoulos ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Amyotrophic Lateral Sclerosis ◽  
Genetic Basis ◽  
Common Variants ◽  
Lateral Sclerosis ◽  
Shared Genetic

History and Prevalence of Involuntary Emotional Expression Disorder

CNS Spectrums ◽  
2007 ◽  
Vol 12 (S5) ◽  
pp. 6-10 ◽  
Author(s):  
John E. Duda
Keyword(s):  
Multiple Sclerosis ◽  
Traumatic Brain Injury ◽  
Amyotrophic Lateral Sclerosis ◽  
Brain Injury ◽  
Neurodegenerative Diseases ◽  
Emotional Expression ◽  
Neurological Disorders ◽  
Prevalence Rates ◽  
Neurological Injuries ◽  
Lateral Sclerosis

AbstractThe syndrome now known as involuntary emotional expression disorder (IEED) is a condition characterized by uncontrollable episodes of laughing and/or crying. It has been known for more than a century, but confusing and conflicting terminology may have hampered the progress of physicians in recognizing this condition. IEED is associated with various neurological disorders and neurodegenerative diseases, including amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease and other dementias, and neurological injuries such as stroke and traumatic brain injury. It is hoped that better defined terminology for IEED may help in the future diagnosis of this debilitating condition, the establishment of accurate prevalence rates for IEED in the varying underlying conditions, and also in removing blame and stigma from sufferers by providing reassurance about the nature of their condition.

scholarly journals Occupational Therapy Interventions in Adults with Multiple Sclerosis or Amyotrophic Lateral Sclerosis: A Scoping Review

2021 ◽  
Vol 18 (4) ◽  
pp. 1432
Author(s):  
Luis De-Bernardi-Ojuel ◽  
Laura Torres-Collado ◽  
Manuela García-de-la-Hera
Keyword(s):  
Multiple Sclerosis ◽  
Amyotrophic Lateral Sclerosis ◽  
Occupational Therapy ◽  
Scoping Review ◽  
Adult Population ◽  
Falls Prevention ◽  
Targeted Interventions ◽  
Therapy Interventions ◽  
Occupational Therapy Interventions ◽  
Lateral Sclerosis

This scoping review aims to describe occupational therapy interventions carried out with multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) patients in occupational therapy. A peer review of the literature was conducted in different databases: Pubmed, Scopus, Web of Science and Embase, and in some occupational therapy journals. A search of the literature published was carried out before December 2019. The inclusion criteria were as follows: (1) articles evaluating the intervention of occupational therapy in MS or ALS including experimental, randomized, nonrandomized and exploratory studies; (2) written in English or Spanish; (3) adult population (over 18 years old). The initial search identified 836 articles of which we included 32 divided into four areas of intervention: fatigue-targeted interventions, cognitive interventions, physical interventions and others. Only 16 studies were carried out exclusively by occupational therapists. Most occupational therapy interventions are aimed at fatigue and physical rehabilitation. The majority of the studies in our review included MS patients, with little representation from the ALS population. These interventions have shown an improvement in perceived fatigue, manual dexterity, falls prevention and improvement in cognitive aspects such as memory, communication, depression and quality of life in the MS and ALS populations.

scholarly journals Genome-wide genetic links between amyotrophic lateral sclerosis and autoimmune diseases

BMC Medicine ◽  
2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Chun Yu Li ◽  
Tian Mi Yang ◽  
Ru Wei Ou ◽  
Qian Qian Wei ◽  
Hui Fang Shang
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Autoimmune Diseases ◽  
Genetic Correlation ◽  
Functional Enrichment ◽  
Genome Wide Association Studies ◽  
Risk Genes ◽  
Genome Wide ◽  
Shared Risk ◽  
Lateral Sclerosis ◽  
Shared Genetic

Abstract Background Epidemiological and clinical studies have suggested comorbidity between amyotrophic lateral sclerosis (ALS) and autoimmune disorders. However, little is known about their shared genetic architecture. Methods To examine the relation between ALS and 10 autoimmune diseases, including asthma, celiac disease (CeD), Crohn’s disease (CD), inflammatory bowel disease (IBD), multiple sclerosis (MS), psoriasis, rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), and ulcerative colitis (UC), and identify shared risk loci, we first estimated the genetic correlation using summary statistics from genome-wide association studies, and then analyzed the genetic enrichment leveraging the conditional false discovery rate statistical method. Results We identified a significant positive genetic correlation between ALS and CeD, MS, RA, and SLE, as well as a significant negative genetic correlation between ALS and IBD, UC, and CD. Robust genetic enrichment was observed between ALS and CeD and MS, and moderate enrichment was found between ALS and UC and T1D. Thirteen shared genetic loci were identified, among which five were suggestively significant in another ALS GWAS, namely rs3828599 (GPX3), rs3849943 (C9orf72), rs7154847 (G2E3), rs6571361 (SCFD1), and rs9903355 (GGNBP2). By integrating cis-expression quantitative trait loci analyses in Braineac and GTEx, we further identified GGNBP2, ATXN3, and SLC9A8 as novel ALS risk genes. Functional enrichment analysis indicated that the shared risk genes were involved in four pathways including membrane trafficking, vesicle-mediated transport, ER to Golgi anterograde transport, and transport to the Golgi and subsequent modification. Conclusions Our findings demonstrate a specific genetic correlation between ALS and autoimmune diseases and identify shared risk loci, including three novel ALS risk genes. These results provide a better understanding for the pleiotropy of ALS and have implications for future therapeutic trials.

scholarly journals Paraoxonase Role in Human Neurodegenerative Diseases

Antioxidants ◽  
2020 ◽  
Vol 10 (1) ◽  
pp. 11
Author(s):  
Cadiele Oliana Reichert ◽  
Debora Levy ◽  
Sergio P. Bydlowski
Keyword(s):  
Oxidative Stress ◽  
Multiple Sclerosis ◽  
Amyotrophic Lateral Sclerosis ◽  
Neurodegenerative Diseases ◽  
High Density Lipoprotein ◽  
Density Lipoprotein ◽  
Structural Homology ◽  
Redox Systems ◽  
Genetic Cluster ◽  
Lateral Sclerosis

The human body has biological redox systems capable of preventing or mitigating the damage caused by increased oxidative stress throughout life. One of them are the paraoxonase (PON) enzymes. The PONs genetic cluster is made up of three members (PON1, PON2, PON3) that share a structural homology, located adjacent to chromosome seven. The most studied enzyme is PON1, which is associated with high density lipoprotein (HDL), having paraoxonase, arylesterase and lactonase activities. Due to these characteristics, the enzyme PON1 has been associated with the development of neurodegenerative diseases. Here we update the knowledge about the association of PON enzymes and their polymorphisms and the development of multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), Alzheimer’s disease (AD) and Parkinson’s disease (PD).

Co-occurrence of multiple sclerosis and amyotrophic lateral sclerosis: A case report

2021 ◽  
Vol 429 ◽  
pp. 118159
Author(s):  
Paola Ajdinaj ◽  
Marianna Gabriella Rispoli ◽  
Laura Ferri ◽  
Maria D'Apolito ◽  
Deborah Farina ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Amyotrophic Lateral Sclerosis ◽  
Case Report ◽  
Lateral Sclerosis
Sign in / Sign up

Export Citation Format

Share Document