Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

Nowicka, Natalia; Juranek, Jakub; Juranek, Judyta K.; Wojtkiewicz, Joanna

doi:10.3390/ijms20112616

Cited by 83 publications

(81 citation statements)

References 152 publications

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“…ALS is affected by both genetic and environmental factors. Mutations in genes such as TDP-43, SOD1, C90RF72 A and FUS may explain 60-80% of familial ALS [116].…”

Section: Evidence From Epidemiological Studiesmentioning

confidence: 99%

Role of Alcohol Drinking in Alzheimer’s Disease, Parkinson’s Disease, and Amyotrophic Lateral Sclerosis

Peng

Yang²,

Joshi

et al. 2020

IJMS

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Neurodegenerative diseases, including Alzheimer’s disease (AD), Parkinson’s disease (PD) and amyotrophic lateral sclerosis (ALS), increase as the population ages around the world. Environmental factors also play an important role in most cases. Alcohol consumption exists extensively and it acts as one of the environmental factors that promotes these neurodegenerative diseases. The brain is a major target for the actions of alcohol, and heavy alcohol consumption has long been associated with brain damage. Chronic alcohol intake leads to elevated glutamate-induced excitotoxicity, oxidative stress and permanent neuronal damage associated with malnutrition. The relationship and contributing mechanisms of alcohol with these three diseases are different. Epidemiological studies have reported a reduction in the prevalence of Alzheimer’s disease in individuals who drink low amounts of alcohol; low or moderate concentrations of ethanol protect against β-amyloid (Aβ) toxicity in hippocampal neurons; and excessive amounts of ethanol increase accumulation of Aβ and Tau phosphorylation. Alcohol has been suggested to be either protective of, or not associated with, PD. However, experimental animal studies indicate that chronic heavy alcohol consumption may have dopamine neurotoxic effects through the induction of Cytochrome P450 2E1 (CYP2E1) and an increase in the amount of α-Synuclein (αSYN) relevant to PD. The findings on the association between alcohol consumption and ALS are inconsistent; a recent population-based study suggests that alcohol drinking seems to not influence the risk of developing ALS. Additional research is needed to clarify the potential etiological involvement of alcohol intake in causing or resulting in major neurodegenerative diseases, which will eventually lead to potential therapeutics against these alcoholic neurodegenerative diseases.

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“…ALS is affected by both genetic and environmental factors. Mutations in genes such as TDP-43, SOD1, C90RF72 A and FUS may explain 60-80% of familial ALS [116].…”

Section: Evidence From Epidemiological Studiesmentioning

confidence: 99%

Role of Alcohol Drinking in Alzheimer’s Disease, Parkinson’s Disease, and Amyotrophic Lateral Sclerosis

Peng

Yang²,

Joshi

et al. 2020

IJMS

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“…In the worldwide, the origin of difference in ALS incidence is a matter of debate. Older age, male sex, family history of ALS have all been established as risk factors, but also environmental risk factors (such as exposure to heavy metals, pesticides, head trauma, electromagnetic field, high BMI and nutritional state, BMAA and even physical activity) and genetic factors (more than 20 different genes have been implicated in FALS and SALS, like SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, c9orf72, TBK1) contributing to the onset of the disease 50 . Since 2014, seven novel genes associated with ALS (MATR3, CHCHD10, TBK1, TUBA4A, NEK1, C21orf2, and CCNF) have been identified by genome‐wide association studies, whole genome studies, or exome sequencing technologies.…”

Section: Discussionmentioning

confidence: 99%

The NGS technology for the identification of genes associated with the ALS. A systematic review

Pecoraro

Mandrioli

Carone

et al. 2020

Eur J Clin Investigation

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Background: More than 30 causative genes have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS). The next-generation sequencing (NGS) is a powerful and groundbreaking tool to identify disease-associated variants. Despite documented advantages of NGS, its diagnostic reliability needs to be addressed in order to use this technology for specific routine diagnosis. Material and Methods: Literature database was explored to identify studies comparing NGS and Sanger sequencing for the detection of variants causing ALS. We collected data about patients' characteristics, disease type and duration, NGS and Sanger properties. Results: More than 200 bibliographic references were identified, of which only 14 studies matching our inclusion criteria. Only 2 out of 14 studies compared results of NGS analysis with the Sanger sequencing. Twelve studies screened causative genes associated to ALS using NGS technologies and confirmed the identified variants with Sanger sequencing. Overall, data about more 2,000 patients were analysed. The number of genes that were investigated in each study ranged from 1 to 32, the most frequent being FUS, OPTN, SETX and VCP. NGS identified already known mutations in 21 genes, and new or rare variants in 27 genes. Conclusions: NGS seems to be a promising tool for the diagnosis of ALS in routine clinical practice. Its advantages are represented by an increased speed and a lowest sequencing cost, but patients' counselling could be problematic due to the discovery of frequent variants of unknown significance. K E Y W O R D S amyothrophic lateral sclerosis, evidence, gene detection, next-generation sequencing, systematic review 2 of 16 | PECORARO Et Al. 4 of 16 | PECORARO Et Al.duration, site of onset); (d) characteristics of NGS technologies; (e) investigated outcomes as defined above.

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“…Extensive repeated testing measuring eye movements with electrooculography (EOG) is necessary J Physiol 00.0 to indicate permanent CLIS. The time course of this transition process is patient and disease specific and no general valid rule exists (Kiernan et al 2011;Nowicka et al 2019). In theory, voluntary muscles other than those used in eye movements could be used for EMG (electromyography)-based communication attempts.…”

Section: Bcis For Communication: Differentiating Between Lis and Clismentioning

confidence: 99%

Neuropsychological and neurophysiological aspects of brain‐computer‐interface (BCI) control in paralysis

Chaudhary

Mrachacz-Kersting

2020

The Journal of Physiology

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He was awarded the best doctoral student award at the end of his doctoral study. After his graduation he commenced his postdoctoral research under the supervision of Professor Birbaumer and later he formed his own group under the supervision of Professor Birbaumer and developed functional near infrared spectroscopy (fNIRS) and electroenecephalogram (EEG)-based BCIs for communication in locked-in state (LIS) and CLIS patients. Over the last 6 years he has worked with several LIS and CLIS patients. Niels Birbaumer is a co-director of the Institute of Medical Psychology at the University of Tübingen, Germany. He has published several hundred scientific papers and 11 books, among them the bestselling Your Brain Knows More than You Think. He pioneered research on physiological self-control and regulation in epilepsy and other neurological and psychiatric disorders. He and his team developed and tested several brain computer interface systems for rehabilitation of paralysed patients, particular those with chronic stroke, and to re-establish communication in completely locked-in patients suffering from amyotrophic lateral sclerosis. Apart from clinical neurophysiological research, he has developed a theory on slow cortical brain potentials.

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Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

Cited by 83 publications

References 152 publications

Role of Alcohol Drinking in Alzheimer’s Disease, Parkinson’s Disease, and Amyotrophic Lateral Sclerosis

Role of Alcohol Drinking in Alzheimer’s Disease, Parkinson’s Disease, and Amyotrophic Lateral Sclerosis

The NGS technology for the identification of genes associated with the ALS. A systematic review

Neuropsychological and neurophysiological aspects of brain‐computer‐interface (BCI) control in paralysis

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