scholarly journals ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules

Biology ◽  
2022 ◽  
Vol 11 (1) ◽  
pp. 77
Author(s):  
Marcello Miceli ◽  
Cécile Exertier ◽  
Marco Cavaglià ◽  
Elena Gugole ◽  
Marta Boccardo ◽  
...  
Keyword(s):  
Motor Neuron ◽  
System Level ◽  
Gene Encoding ◽  
Motor Neuron Diseases ◽  
Spastic Paralysis ◽  
Protein Partners ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
The Brain ◽  
Primary Lateral ◽  
Lateral Sclerosis

Infantile-onset Ascending Hereditary Spastic Paralysis, Juvenile Primary Lateral Sclerosis and Juvenile Amyotrophic Lateral Sclerosis are all motor neuron diseases related to mutations on the ALS2 gene, encoding for a 1657 amino acids protein named Alsin. This ~185 kDa multi-domain protein is ubiquitously expressed in various human tissues, mostly in the brain and the spinal cord. Several investigations have indicated how mutations within Alsin’s structured domains may be responsible for the alteration of Alsin’s native oligomerization state or Alsin’s propensity to interact with protein partners. In this review paper, we propose a description of differences and similarities characterizing the above-mentioned ALS2-related rare neurodegenerative disorders, pointing attention to the effects of ALS2 mutation from molecule to organ and at the system level. Known cases were collected through a literature review and rationalized to deeply elucidate the neurodegenerative clinical outcomes as consequences of ALS2 mutations.

scholarly journals Progressive brainstem pathology in motor neuron diseases: Imaging data from amyotrophic lateral sclerosis and primary lateral sclerosis

Data in Brief ◽  
2020 ◽  
Vol 29 ◽  
pp. 105229 ◽  
Author(s):  
Peter Bede ◽  
Rangariroyashe H. Chipika ◽  
Eoin Finegan ◽  
Stacey Li Hi Shing ◽  
Kai Ming Chang ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Primary Lateral Sclerosis ◽  
Imaging Data ◽  
Motor Neuron Diseases ◽  
Primary Lateral ◽  
Lateral Sclerosis

ParaCom An IoT based affordable solution enabling people with limited mobility to interact with machines

2022 ◽  
Vol 6 (1) ◽  
pp. 0-0
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Primary Lateral Sclerosis ◽  
Motor Neuron Diseases ◽  
Body Balance ◽  
Limited Mobility ◽  
Morse Code ◽  
Communication Controller ◽  
Primary Lateral ◽  
Lateral Sclerosis

There are many people in this world who don’t have the ability to communicate with others due to some unforeseen accident. User’s who are paralyzed and/or suffering from different Motor Neuron Diseases (MND) like Amyotrophic Lateral Sclerosis (ALS), Primary Lateral Sclerosis etc, by making them more independent. Patients suffering from these diseases are not able to move their arms and legs, lose their body balance and the ability to speak. Here we propose an IoT based communication controller using the concept of Morse Code Technology which controls the smartphone of the user. This paper proposes a solution to give the user ability to communicate to other people using machine as an intermediator. The device will require minimal inputs from the user.

scholarly journals Estimation of the prevalence and incidence of motor neuron diseases in two Spanish regions: Catalonia and Valencia

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Maria A. Barceló ◽  
Mònica Povedano ◽  
Juan F. Vázquez-Costa ◽  
Álvaro Franquet ◽  
Marta Solans ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Muscular Atrophy ◽  
Population Based ◽  
Motor Neuron Diseases ◽  
Spanish Regions ◽  
Confounding Variables ◽  
The Individual ◽  
Primary Lateral ◽  
Lateral Sclerosis ◽  
Part Model

AbstractAccording to the degree of upper and lower motor neuron degeneration, motor neuron diseases (MND) can be categorized into amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS) or progressive muscular atrophy (PMA). Although several studies have addressed the prevalence and incidence of ALS, there is a high heterogeneity in their results. Besides this, neither concept has been previously studied in PLS or PMA. Thus, the objective of this study was to estimate the prevalence and incidence of MND, (distinguishing ALS, PLS and PMA), in the Spanish regions of Catalonia and Valencia in the period 2011–2019. Two population-based Spanish cohorts were used, one from Catalonia and the other from Valencia. Given that the samples that comprised both cohorts were not random, i.e., leading to a selection bias, we used a two-part model in which both the individual and contextual observed and unobserved confounding variables are controlled for, along with the spatial and temporal dependence. The prevalence of MND was estimated to be between 3.990 and 6.334 per 100,000 inhabitants (ALS between 3.248 and 5.120; PMA between 0.065 and 0.634; and PLS between 0.046 and 1.896), and the incidence between 1.682 and 2.165 per 100,000 person-years for MND (ALS between 1.351 and 1.754; PMA between 0.225 and 0.628; and PLS between 0.409–0.544). Results were similar in the two regions and did not differ from those previously reported for ALS, suggesting that the proposed method is robust and that neither region presents differential risk or protective factors.

scholarly journals “Switchboard” malfunction in motor neuron diseases: Selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis

2020 ◽  
Vol 27 ◽  
pp. 102300 ◽  
Author(s):  
Rangariroyashe H. Chipika ◽  
Eoin Finegan ◽  
Stacey Li Hi Shing ◽  
Mary Clare McKenna ◽  
Foteini Christidi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Primary Lateral Sclerosis ◽  
Thalamic Nuclei ◽  
Motor Neuron Diseases ◽  
Primary Lateral ◽  
Lateral Sclerosis

Motor Neuron Diseases (Amyotrophic Lateral Sclerosis)

2017 ◽  
pp. 15-32
Author(s):  
Satish V. Khadilkar ◽  
Rakhil S. Yadav ◽  
Bhagyadhan A. Patel
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Motor Neuron Diseases ◽  
Lateral Sclerosis

Motor Neuron Diseases

2021 ◽  
pp. 752-759
Author(s):  
Eric J. Sorenson
Keyword(s):  
Motor Neuron ◽  
Incidence Rate ◽  
Motor Neurons ◽  
Anterior Horn Cell ◽  
Adult Onset ◽  
Motor Neuron Diseases ◽  
Kii Peninsula ◽  
Geographic Boundaries ◽  
Spinal Muscular Atrophies ◽  
Lateral Sclerosis

The motor neuron disorders are a clinically diverse group of diseases that share a pathologic loss of the motor neurons. The most common adult-onset disorder is amyotrophic lateral sclerosis (ALS). Other forms include the spinal muscular atrophies, infectious motor neuronopathies, and rare focal forms of anterior horn cell loss.Overall, the incidence rate of ALS is believed to be 1.5 to 2.0 cases per 100,000 person-years, and the prevalence rate is 4 to 6 cases per 100,000 population. Other than in sparsely populated geographic clusters (eg, Guam and the Kii Peninsula of Japan), the incidence rate seems consistent across ethnic and geographic boundaries.

scholarly journals Radon Exposure and Neurodegenerative Disease

2020 ◽  
Vol 17 (20) ◽  
pp. 7439
Author(s):  
Silvia Gómez-Anca ◽  
Juan Miguel Barros-Dios
Keyword(s):  
Neurodegenerative Diseases ◽  
Scientific Evidence ◽  
Subsequent Development ◽  
Brain Anatomy ◽  
Inclusion Criteria ◽  
Motor Neuron Diseases ◽  
Radon Exposure ◽  
Bibliographic Search ◽  
The Brain ◽  
Lateral Sclerosis

Background: To carry out a systematic review of scientific literature about the association between radon exposure and neurodegenerative diseases. Methods: We performed a bibliographic search in the following databases: Pub med (Medline), Cochrane, BioMed Central and Web of Science. We collected the data by following a predetermined search strategy in which several terms werecombined. After an initial search, 77 articles were obtained.10 of which fulfilled the inclusion criteria. Five of these 10 studies were related to multiple sclerosis (MS), 2 were about motor neuron diseases (MND), in particular amyotrophic lateral sclerosis (ALS) and 3 were related to both Alzheimer’s disease (AD) and Parkinson’s disease (PD). Results: The majority of the included articles, suggested a possible association between radon exposure and a subsequent development of neurodegenerative diseases. Some of the studies that obtained statistically significant resultsrevealed a possible association between radon exposure and an increase in MS prevalence. Furthermore, it was also suggested that radon exposure increases MND and AD mortality. Regarding AD and PD, it was observed that certainde cay products of radon-222 (222Rn), specifically polonium-210 (210Po) and bismuth-210 (210Bi), present a characteristic distributionpattern within the brain anatomy. However, the study with the highest scientific evidence included in this review, which investigated a possible association between the concentration of residential radon gas and the MS incidence, revealed no significant results. Conclusions: It cannot be concluded, although it is observed, that there is a possible causal association between radon exposure and neurodegenerative diseases. Most of the available studies are ecological so, studies of higher statistical evidence are needed to establish a causal relationship. Further research is needed on this topic.

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