24,710 results match your criteria Amyotrophic Lateral Sclerosis [Journal]


Chemicals, somatic mutations and neurodegeneration: Evidence from Western Pacific ALS-PDC.

Neuropathol Appl Neurobiol 2018 Dec 17. Epub 2018 Dec 17.

Department of Neurology, School of Medicine and Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, Portland, Oregon, USA.

Leija-Salazar and colleagues discuss current evidence for somatic mutations in neurodegeneration, focusing on sporadic, usually late-onset neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), Parkinson disease (PD) and Alzheimer's disease (AD). Somatic mutation, defined as any acquired post-zygotic change in the nuclear genome, has long been linked to chemically induced DNA damage, aging and cancer but little more than a theoretical basis exists to associate comparable phenomena with sporadic neurodegenerative diseases. Whereas specific exogenous mutagenic chemicals, such as the fungal toxin aflatoxin B1, the amine dye benzo(a)-pyrene, and a tobacco-specific N-nitrosamine, are key examples of proven mutagenic carcinogens [2], only broad exposure categories, such as tobacco smoke, have been linked positively with ALS and AD, and negatively with PD. Read More

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December 2018

New molecular diagnostic trends and biomarkers for Amyotrophic Lateral Sclerosis.

Hum Mutat 2018 Dec 17. Epub 2018 Dec 17.

Department of Pharmacy, School of Health Sciences, University of Patras, Rion GR-265 04, Patras, Greece.

Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5-10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early diagnosis of ALS is important since it improves their therapeutic efficacy. Read More

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December 2018

Misdiagnosis: Hypoglossal palsy mimicking bulbar onset amyotrophic lateral sclerosis.

eNeurologicalSci 2019 Mar 22;14:6-8. Epub 2018 Nov 22.

Mayo Clinic Florida, Department of Neurology, USA.

Bulbar onset amyotrophic lateral sclerosis (bALS) is a currently incurable neurodegenerative condition characterized by insidious progression of bulbar muscle paresis; namely dyspnea, dysarthria, and dysphagia. The diagnosis of bALS requires exclusion of mimicking pathologies as the diagnosis of bALS may have significant implications on patients' quality of life, future planning, and familial/social dynamics. Herein we present two cases which were misdiagnosed as bALS when in fact a structural lesion of the hypoglossal nerve was causative. Read More

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Changes in Serine Racemase-Dependent Modulation of NMDA Receptor: Impact on Physiological and Pathological Brain Aging.

Front Mol Biosci 2018 28;5:106. Epub 2018 Nov 28.

UNICAEN, INSERM, COMETE, Normandie University, Caen, France.

The N-methyl-D-Aspartate glutamate receptors (NMDARs) are pivotal for the functional and morphological plasticity that are required in neuronal networks for efficient brain activities and notably for cognitive-related abilities. Because NMDARs are heterogeneous in subunit composition and associated with multiple functional regulatory sites, their efficacy is under the tonic influence of numerous allosteric modulations, whose dysfunction generally represents the first step generating pathological states. Among the enzymatic candidates, serine racemase (SR) has recently gathered an increasing interest considering that it tightly regulates the production of d-serine, an amino acid now viewed as the main endogenous co-agonist necessary for NMDAR activation. Read More

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November 2018

Phenotypic heterogeneity of astrocytes in motor neuron disease.

Clin Exp Neuroimmunol 2018 Nov 4;9(4):225-234. Epub 2018 Oct 4.

Department of Neuroscience and Pathobiology Research Institute of Environmental Medicine Nagoya University Nagoya Japan.

Accumulating evidence has shown that astrocytes do not just support the function of neurons, but play key roles in maintaining the brain environment in health and disease. Contrary to the traditional understanding of astrocytes as static cells, reactive astrocytes possess more diverse functions and phenotypes than previously predicted. In the present focused review, we summarize the evidence showing that astrocytes are playing profound roles in the disease process of amyotrophic lateral sclerosis. Read More

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November 2018

Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

Lancet Neurol 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurology, Institute of Experimental Neurology, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy. Electronic address:

Background: Spasticity is a major determinant of disability and decline in quality of life in patients with motor neuron disease. Cannabinoids have been approved for symptomatic treatment of spasticity in multiple sclerosis. We investigated whether cannabinoids might also reduce spasticity in patients with motor neuron disease. Read More

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December 2018

Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation.

Neurol Sci 2018 Dec 15. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milan, Italy.

Objective: The hexanucleotide repeat expansion in C9orf72 is an associated genetic cause in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In the "ALS/FTD" spectrum prevails clinical heterogeneity and an in vivo knowledge of the underling brain dysfunction in patients carrying C9orf72 mutation remain limited and only described at group level. The study aimed to assess the brain metabolic alterations characterizing patients with C9orf72 mutation using FDG-PET in single individuals. Read More

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December 2018
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Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.

Neurobiol Aging 2018 Nov 16. Epub 2018 Nov 16.

School of Biology, College of Science, University of Tehran, Tehran, Iran; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran. Electronic address:

Mutations in the same gene are sometimes the cause of different clinically diagnosed neurologic disorders; this emphasizes interrelationships between various neurologic diseases. In this light, we screened SLC52A3, which is the cause of Brown-Vialetto-Van Laere syndrome, and C19orf12, which is the cause of neurodegeneration with brain iron accumulation in 60 Iranian amyotrophic lateral sclerosis (ALS) patients without mutations in the 2 most important ALS-causing genes, SOD1 and C9orf72. To the best of our knowledge, neither SLC52A3 nor C19orf12 has been mutation-screened previously in ALS cohorts. Read More

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November 2018

Identification of a circulating miRNA signature in extracellular vesicles collected from amyotrophic lateral sclerosis patients.

Brain Res 2018 Dec 12. Epub 2018 Dec 12.

Department of Chemistry and Biochemistry, Université de Moncton, 18 Antonine-Maillet Avenue, Moncton, New Brunswick, E1A 3E9, Canada. Electronic address:

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder associated with the progressive death of motor neurons. Mean survival for a patient diagnosed with ALS is between 2 to 5 years. Early and efficient diagnosis of the various forms of ALS remains a significant challenge, resulting in a need to identify clinically-relevant biomarkers in readily accessible body fluids. Read More

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December 2018

Personalized Medicine and Molecular Interaction Networks in Amyotrophic Lateral Sclerosis (ALS): Current Knowledge.

J Pers Med 2018 Dec 13;8(4). Epub 2018 Dec 13.

Northern Ireland Centre for Stratified Medicine, Altnagelvin Hospital Campus, Ulster University, Londonderry, BT47 6SB, Northern Ireland, UK.

Multiple genes and mechanisms of pathophysiology have been implicated in amyotrophic lateral sclerosis (ALS), suggesting it is a complex systemic disease. With this in mind, applying personalized medicine (PM) approaches to tailor treatment pipelines for ALS patients may be necessary. The modelling and analysis of molecular interaction networks could represent valuable resources in defining ALS-associated pathways and discovering novel therapeutic targets. Read More

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December 2018

The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives.

Brain Sci 2018 Dec 13;8(12). Epub 2018 Dec 13.

Evidence-Based Therapeutics Group, Department of Clinical Pharmacology, Universidad de La Sabana, Chía 140013, Colombia.

Genetics has led to a new focus regarding approaches to the most prevalent diseases today. Ascertaining the molecular secrets of neurodegenerative diseases will lead to developing drugs that will change natural history, thereby affecting the quality of life and mortality of patients. The sequencing of candidate genes in patients suffering neurodegenerative pathologies is faster, more accurate, and has a lower cost, thereby enabling algorithms to be proposed regarding the risk of neurodegeneration onset in healthy persons including the year of onset and neurodegeneration severity. Read More

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December 2018

Vestibular dysfunction as cortical damage with amyotrophic lateral sclerosis.

J Neurol Sci 2018 Dec 5;397:4-8. Epub 2018 Dec 5.

Department of Neurology, Division of Clinical Medicine, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

Background: Cortical damage in areas such as the frontal lobe is reported in amyotrophic lateral sclerosis (ALS). However, aside from executive dysfunction, the pathological significance of this cortical damage has yet to be clarified. The present study investigated the effects of cortical damage on vestibular function in ALS. Read More

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December 2018
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Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS One 2018 14;13(12):e0208383. Epub 2018 Dec 14.

Karolinska Institutet, Dept NVS, Division for Neurogeriatrics, Bioclinicum, Akademiska stråket, Solna, Sweden.

Background: The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the frequency of C9orf72 repeat expansions in a Bulgarian dementia cohort and to delineate the associated clinical features.

Methods And Findings: PCR-based assessments of the C9orf72 hexanucleotide repeat expansion in all study samples (including 82 FTD, 37 Alzheimer's disease (AD), and 16 other neurodegenerative/dementia disorder cases) were performed. Read More

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December 2018

Distinction of sporadic and familial forms of ALS based on mitochondrial characteristics.

FASEB J 2018 Dec 14:fj201801843R. Epub 2018 Dec 14.

Laboratory of Bioenergetics and Biomembranes, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.

Bioenergetic failure, oxidative stress, and changes in mitochondrial morphology are common pathologic hallmarks of amyotrophic lateral sclerosis (ALS) in several cellular and animal models. Disturbed mitochondrial physiology has serious consequences for proper functioning of the cell, leading to the chronic mitochondrial stress. Mitochondria, being in the center of cellular metabolism, play a pivotal role in adaptation to stress conditions. Read More

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December 2018

Using automated electronic medical record data extraction to model ALS survival and progression.

BMC Neurol 2018 Dec 14;18(1):205. Epub 2018 Dec 14.

Department of Neurology, University of Kansas Medical Center, Kansas City, USA.

Background: To assess the feasibility of using automated capture of Electronic Medical Record (EMR) data to build predictive models for amyotrophic lateral sclerosis (ALS) outcomes.

Methods: We used an Informatics for Integrating Biology and the Bedside search discovery tool to identify and extract data from 354 ALS patients from the University of Kansas Medical Center EMR. The completeness and integrity of the data extraction were verified by manual chart review. Read More

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December 2018
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Glucose metabolic brain patterns to discriminate amyotrophic lateral sclerosis from Parkinson plus syndromes.

EJNMMI Res 2018 Dec 13;8(1):110. Epub 2018 Dec 13.

Department of Nuclear Medicine and Molecular Imaging, Division of Nuclear Medicine, KU Leuven, Herestraat 49, 3000, Leuven, Belgium.

Background: F-FDG brain PET measures metabolic changes in neurodegenerative disorders and may discriminate between different diseases even at an early stage. The objective of this study was to classify patients with amyotrophic lateral sclerosis (ALS) and Parkinson plus syndromes (PP). To this end, different approaches were evaluated using generalized linear models and corresponding glucose metabolic brain patterns. Read More

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December 2018

Frontostriatal grey matter atrophy in amyotrophic lateral sclerosis A visual rating study.

Dement Neuropsychol 2018 Oct-Dec;12(4):388-393

Faculty of Medicine and Health Sciences, University of East Anglia, Norwich, UK.

Amyotrophic lateral sclerosis (ALS) is characterised by frontostriatal grey matter changes similar to those in frontotemporal dementia (FTD). However, these changes are usually detected at a group level, and simple visual magnetic resonance imaging (MRI) cortical atrophy scales may further elucidate frontostriatal changes in ALS.

Objective: To investigate whether frontostriatal changes are detectable using simple visual MRI atrophy rating scales applied at an individual patient level in ALS. Read More

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December 2018

Downregulation of Neuronal and Dendritic Connexin36-Made Electrical Synapses Without Glutamatergic Axon Terminals in Spinal Anterior Horn Cells From the Early Stage of Amyotrophic Lateral Sclerosis.

Front Neurosci 2018 28;12:894. Epub 2018 Nov 28.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Connexin36 (Cx36) forms gap junctions between neurons, which are called electrical synapses, enabling adjacent neurons to communicate directly. The participation of chemical synapses in neurodegeneration in amyotrophic lateral sclerosis (ALS) has long been indicated, but it remains unclear whether electrical synapses are involved in the pathogenesis of ALS. We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases. Read More

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November 2018
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Cyanobacterial Neurotoxin Beta-Methyl-Amino-l-Alanine Affects Dopaminergic Neurons in Optic Ganglia and Brain of .

Toxins (Basel) 2018 Dec 8;10(12). Epub 2018 Dec 8.

Department of Zoology, Functional Morphology, Stockholm University, Svante Arrhenius väg 18B, S-10691 Stockholm, Sweden.

The non-proteinogenic amino acid beta-methyl-amino-l-alanine (BMAA) is a neurotoxin produced by cyanobacteria. BMAA accumulation in the brain of animals via biomagnification along the food web can contribute to the development of neurodegenerative diseases such as Amyotrophic lateral sclerosis/Parkinsonism dementia complex (ALS/PDC), the latter being associated with a loss of dopaminergic neurons. is an important microcrustacean zooplankton species that plays a key role in aquatic food webs, and BMAA-producing cyanobacteria often form part of their diet. Read More

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December 2018

A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility.

Mutat Res 2018 Nov 29;813:1-12. Epub 2018 Nov 29.

Kusuma School of Biological Sciences, Indian Institute of Technology Delhi, Hauz Khas, New Delhi, 110016, India. Electronic address:

Missense mutations in certain genes of the Ribonuclease (RNASE) superfamily cause amyotrophic lateral sclerosis (ALS) through loss of either ribonucleolytic or nuclear translocation or both of these activities. While rare ANG/RNASE5 variants have been previously shown to be ALS causative, it is not yet known if any of the reported rare RNASE4 variants can also trigger ALS. The study aims to understand whether rare variants of RNASE4 can manifest ALS through similar loss-of-function mechanisms. Read More

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November 2018

Molecular binding response of naringin and naringenin to H46R mutant SOD1 protein in combating protein aggregation using density functional theory and discrete molecular dynamics.

Prog Biophys Mol Biol 2018 Dec 10. Epub 2018 Dec 10.

Bioinformatics Lab, Department of Biotechnology, School of Bio Sciences and Technology, VIT (Deemed to be University), Vellore, 632014, Tamil Nadu, India. Electronic address:

Amyotrophic lateral sclerosis (ALS) is a calamitous neurodegenerative disorder characterized by denervation of upper and lower motor neurons. Numerous hypotheses suggest that toxic protein misfolding and aggregation cause ALS, similar to that of other neurodegenerative diseases, such as Alzheimers and Parkinsons. Protruding causes of familial ALS are mutations in the gene encoding Cu/Zn superoxide dismutase-1 (SOD1), which decrease protein stability and endorse protein aggregation. Read More

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December 2018

Identification of TCERG1 as a new genetic modulator of TDP-43 production in Drosophila.

Acta Neuropathol Commun 2018 Dec 12;6(1):138. Epub 2018 Dec 12.

Normandie University, UNIROUEN, Inserm, U1245, IRIB, Rouen, France.

TAR DNA-binding protein-43 (TDP-43) is a ubiquitously expressed DNA-/RNA-binding protein that has been linked to numerous aspects of the mRNA life cycle. Similar to many RNA-binding proteins, TDP-43 expression is tightly regulated through an autoregulatory negative feedback loop. Cell function and survival depend on the strict control of TDP-43 protein levels. Read More

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December 2018

GM604 regulates developmental neurogenesis pathways and the expression of genes associated with amyotrophic lateral sclerosis.

Transl Neurodegener 2018 3;7:30. Epub 2018 Dec 3.

Genervon Biopharmaceuticals LLC, Pasadena, CA USA.

Background: Amyotrophic lateral sclerosis (ALS) is currently an incurable disease without highly effective pharmacological treatments. The peptide drug GM604 (GM6 or Alirinetide) was developed as a candidate ALS therapy, which has demonstrated safety and good drug-like properties with a favorable pharmacokinetic profile. GM6 is hypothesized to bolster neuron survival through the multi-target regulation of developmental pathways, but mechanisms of action are not fully understood. Read More

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December 2018

Clinical and Radiological Markers of Extra-Motor Deficits in Amyotrophic Lateral Sclerosis.

Front Neurol 2018 22;9:1005. Epub 2018 Nov 22.

Computational Neuroimaging Group, Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland.

Amyotrophic lateral sclerosis (ALS) is now universally recognized as a complex multisystem disorder with considerable extra-motor involvement. The neuropsychological manifestations of frontotemporal, parietal, and basal ganglia involvement in ALS have important implications for compliance with assistive devices, survival, participation in clinical trials, caregiver burden, and the management of individual care needs. Recent advances in neuroimaging have been instrumental in characterizing the biological substrate of heterogeneous cognitive and behavioral deficits in ALS. Read More

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November 2018

Watch, Imagine, Attempt: Motor Cortex Single-Unit Activity Reveals Context-Dependent Movement Encoding in Humans With Tetraplegia.

Front Hum Neurosci 2018 15;12:450. Epub 2018 Nov 15.

Department of Neuroscience, Brown University, Providence, RI, United States.

Planning and performing volitional movement engages widespread networks in the human brain, with motor cortex considered critical to the performance of skilled limb actions. Motor cortex is also engaged when actions are observed or imagined, but the manner in which ensembles of neurons represent these volitional states (VoSs) is unknown. Here we provide direct demonstration that observing, imagining or attempting action activates shared neural ensembles in human motor cortex. Read More

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November 2018

Human diaphragm atrophy in ALS is not predicted by routine respiratory measures.

Eur Respir J 2018 Dec 5. Epub 2018 Dec 5.

APHP, Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Département de Neurologie, Centre référent SLA, Paris, France.

Amyotrophic lateral sclerosis (ALS) patients show progressive respiratory muscle weakness leading to death from respiratory failure. However, there are no data on diaphragm histological changes in ALS patients and how they correlate with routine respiratory measurements.We collected 39 diaphragm biopsies concomitantly with laparoscopic insertion of intradiaphragmatic electrodes during a randomised controlled trial evaluating early diaphragm pacing in ALS (NCT01583088). Read More

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December 2018

Increased IP-10 production by blood-nerve barrier in multifocal acquired demyelinating sensory and motor neuropathy and multifocal motor neuropathy.

J Neurol Neurosurg Psychiatry 2018 Dec 6. Epub 2018 Dec 6.

Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, Japan

Objective: Dysfunction of the blood-nerve barrier (BNB) plays important roles in chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN). The aim of the present study was to identify the candidate cytokines/chemokines that cause the breakdown of the BNB using sera from patients with CIDP and MMN.

Methods: We determined the levels of 27 cytokines and chemokines in human peripheral nerve microvascular endothelial cells (PnMECs) after exposure to sera obtained from patients with CIDP variants (typical CIDP and multifocal acquired demyelinating sensory and motor neuropathy [MADSAM]), MMN and amyotrophic lateral sclerosis (ALS), and healthy controls (HC), using a multiplexed fluorescent bead-based immunoassay system. Read More

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December 2018

[Under-diagnosis of neuromuscular diseases in patients of 80 years and older].

Rev Esp Geriatr Gerontol 2018 Dec 3. Epub 2018 Dec 3.

Servicio de Geriatría, Hospital Universitario de la Santa Creu, Vic, Barcelona, España; Grupo de Investigación en Cronicidad de la Catalunya Central (C3RG), España.

Myasthenia gravis (MG), amyotrophic lateral sclerosis and Guillain-Barre syndrome (GBS) have been classically considered as exceptional or unusual diseases in people with a geriatric profile. Over the past 25 years, several population-based studies have been conducted in the Osona area (Barcelona), which, for the first time, has led to describing the high global incidences in the elderly, especially those over 80 years-old. The results suggest the possibility of underdiagnosis of these neuromuscular diseases in the elderly, a fact that could be especially relevant in the case of MG and GBS, since they are 2potentially reversible entities with high mortality in the event of underdiagnosis and absence of treatment. Read More

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December 2018

Axon-Seq Decodes the Motor Axon Transcriptome and Its Modulation in Response to ALS.

Stem Cell Reports 2018 Dec;11(6):1565-1578

Department of Neuroscience, Karolinska Institutet, Stockholm 171 77, Sweden. Electronic address:

Spinal motor axons traverse large distances to innervate target muscles, thus requiring local control of cellular events for proper functioning. To interrogate axon-specific processes we developed Axon-seq, a refined method incorporating microfluidics, RNA sequencing (RNA-seq), and bioinformatic quality control. We show that the axonal transcriptome is distinct from that of somas and contains fewer genes. Read More

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December 2018
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Monitoring Value of Multimodal Magnetic Resonance Imaging in Disease Progression of Amyotrophic Lateral Sclerosis: A Prospective Observational Study.

Chin Med J (Engl) 2018 Dec;131(24):2904-2909

Department of Neurology, Peking Union Medical College Hospital; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing 100730, China.

Background: Ongoing efforts have been made to identify new neuroimaging markers to track amyotrophic lateral sclerosis (ALS) progression. This study aimed to explore the monitoring value of multimodal magnetic resonance imaging (MRI) in the disease progression of ALS.

Methods: From September 2015 to March 2017, ten patients diagnosed with ALS in Peking Union Medical College Hospital completed head MRI scans at baseline and during follow-up. Read More

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December 2018
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Network strategy to investigate differential pathways in sporadic amyotrophic lateral sclerosis.

J Cancer Res Ther 2018 Dec;14(Supplement):S1057-S1062

Department of Internal Medicine of TCM, Zhonglu Hospital, Shandong University of TCM, Jinan, Shandong Province, China.

Objective: The objective of this paper was to investigate differential pathways in sporadic amyotrophic lateral sclerosis (SALS) based on pathway network analysis.

Materials And Methods: To achieve this goal, first, differentially expressed genes (DEGs) between SALS and normal controls were identified, and a target network was defined as DEGs correlated interactions from the search tool for the retrieval of interacting genes/proteins (STRING). Second, topological centrality analysis was conducted on the target network to identify hub genes and hub network. Read More

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December 2018
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Traditional Korean Medicine Treatment for Patients with Wilting Disorder: A Literature Review of In Vivo Studies.

Evid Based Complement Alternat Med 2018 13;2018:5601846. Epub 2018 Nov 13.

Department of Acupuncture & Moxibustion, Kyung Hee University Hospital at Gangdong, 149 Sangil-dong, Gangdong-gu, Seoul 134-727, Republic of Korea.

Wilting disorder is an abnormal condition characterized by weakness and paralysis of the upper and lower extremities. Pathogenesis and treatment target of the disorder are unclear; hence, allopathic treatment is generally used to relieve the symptoms. To investigate the treatment mechanism and effect of Traditional Korean Medicine (TKM) in patients with wilting disorder, we reviewed in vivo studies that focused on the effect of TKM on the main symptoms of wilting disorder and treatment of the diseases that can cause these symptoms. Read More

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November 2018

Sexuality and intimacy in ALS: systematic literature review and future perspectives.

J Neurol Neurosurg Psychiatry 2018 Dec 11. Epub 2018 Dec 11.

Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano, IRCCS, Milan, Italy

Several features of amyotrophic lateral sclerosis (ALS) impact on sexuality and intimate relationship; however, the issue has received poor attention so far. We performed a systematic literature review in order to provide an up-to-date account of sexuality in ALS. References were identified by searches of PubMed, Web of Science, Scopus and PsycINFO (1970-2017, English literature). Read More

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December 2018

Deficits in Emotion Recognition as Markers of Frontal Behavioral Dysfunction in Amyotrophic Lateral Sclerosis.

J Neuropsychiatry Clin Neurosci 2018 Dec 12:appineuropsych18040086. Epub 2018 Dec 12.

From the Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (Martins, Prado, Teixeira, de Souza); Programa de Pós-Graduação em Neurociências, da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (Prado, Teixeira, de Souza); the Departamento de Neurología Sur/Departamento de Neurociencia, Facultad de Medicina, Universidad de Chile, Santiago, Chile (Lillo); the Geroscience Center for Brain Health and Metabolism, Santiago, Chile (Lillo); the School of Health Sciences, University of East Anglia, Norwich, United Kingdom (Mioshi); and the Department of Internal Medicine, Faculdade de Medicina, da Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil (Teixeira, de Souza).

Objective:: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with prominent motor symptoms. Patients with ALS may also manifest frontal behavior symptoms and cognitive decline, including impairment in facial emotion recognition. The authors aimed to investigate whether deficits in emotion recognition were associated with frontal behavior symptoms in ALS. Read More

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December 2018

Safety, Tolerability, and Pharmacodynamics of Intrathecal Injection of Recombinant Human HGF (KP-100) in Subjects With Amyotrophic Lateral Sclerosis: A Phase I Trial.

J Clin Pharmacol 2018 Dec 11. Epub 2018 Dec 11.

Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.

Hepatocyte growth factor is an endogenous pleiotropic factor shown to act as a potent neuroprotectant against disease progression in animal models of amyotrophic lateral sclerosis, which is a devastating, adult-onset motor neuron disease. To evaluate the safety, tolerability, and pharmacokinetics of recombinant 5-residue-deleted human hepatocyte growth factor (KP-100) injected intrathecally through an implantable catheter connected to a subcutaneous port, we conducted a first-in-human phase I trial of intrathecal KP-100 in 15 Japanese patients with amyotrophic lateral sclerosis. The regimen was a single injection of 3 escalating doses (0. Read More

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December 2018
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Rare variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort.

Transl Neurodegener 2018 4;7:31. Epub 2018 Dec 4.

1Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Rd, Changsha, 410008 China.

Background: The TANK-Binding Kinase 1 () gene has recently been identified as the third or fourth most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The aim of this study was to assess the genetic contribution of in a Chinese cohort.

Methods: A total of 270 cases with ALS, FTD, or their combination were recruited into this study. Read More

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December 2018

Biomarker Supervised G-CSF (Filgrastim) Response in ALS Patients.

Front Neurol 2018 26;9:971. Epub 2018 Nov 26.

Department of Neurology, University Hospital Regensburg, Regensburg, Germany.

To evaluate safety, tolerability and feasibility of long-term treatment with Granulocyte-colony stimulating factor (G-CSF), a well-known hematopoietic stem cell factor, guided by assessment of mobilized bone marrow derived stem cells and cytokines in the serum of patients with amyotrophic lateral sclerosis (ALS) treated on a named patient basis. 36 ALS patients were treated with subcutaneous injections of G-CSF on a named patient basis and in an outpatient setting. Drug was dosed by individual application schemes (mean 464 Mio IU/month, range 90-2160 Mio IU/month) over a median of 13. Read More

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November 2018

NEAT1 and paraspeckles in neurodegenerative diseases: A missing lnc found?

Noncoding RNA Res 2018 Dec 15;3(4):243-252. Epub 2018 Nov 15.

Medicines Discovery Institute, School of Biosciences, Cardiff University, Park Place, Cardiff, CF10 3AT, United Kingdom.

Neurodegenerative diseases are among the most common causes of disability worldwide. Although neurodegenerative diseases are heterogeneous in both their clinical features and the underlying physiology, they are all characterised by progressive loss of specific neuronal populations. Recent experimental evidence suggests that long non-coding RNAs (lncRNAs) play important roles in the CNS in health and disease. Read More

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December 2018

Long non coding RNAs and ALS: Still much to do.

Noncoding RNA Res 2018 Dec 15;3(4):226-231. Epub 2018 Nov 15.

Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.

Alterations in RNA metabolism play an important role in Amyotrophic Lateral Sclerosis (ALS) pathogenesis. The literature has described, so far, a small number of long non coding RNAs (lncRNAs) associated to ALS demonstrating that how there is still much to do to identify and understand their role in ALS. This class of RNAs may offer numerous starting points for new investigations about pathogenic mechanism involved in ALS disease. Read More

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December 2018

Non-coding RNA in -related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction.

Noncoding RNA Res 2018 Dec 10;3(4):178-187. Epub 2018 Sep 10.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

A hexanucleotide repeat expansion in the first intron/promoter region of is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Both sense and antisense transcripts exist at the locus but the function of the antisense lncRNA is unknown. RNA toxicity of the transcribed repeat expansion has been implicated in the pathogenesis of -related ALS/FTD, not only through direct sequestration of important RNA binding proteins but also indirectly through non-ATG dependent translation into dipeptide repeats. Read More

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December 2018

Triple Stimulation Technique in Amyotrophic Lateral Sclerosis.

J Clin Neurophysiol 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurology, Peking Union Medical College Hospital, Beijing, China.

Purpose: To identify upper motor neuron (UMN) dysfunction using the triple stimulation technique (TST) in amyotrophic lateral sclerosis (ALS).

Methods: Fifty ALS and 42 non-ALS patients were examined clinically, using conventional transcranial magnetic stimulation and TST.

Results: For ALS patients presenting with UMN in tested limb, the TST amplitude ratio was abnormal in 25 of 28 patients (89. Read More

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December 2018

Safety of intrathecal injection of Wharton's jelly-derived mesenchymal stem cells in amyotrophic lateral sclerosis therapy.

Neural Regen Res 2019 Feb;14(2):313-318

Department of Neurology and Neurosurgery, School of Medicine, Collegium Medicum - University of Warmia and Mazury in Olsztyn; University Clinical Hospital in Olsztyn, Olsztyn, Poland.

Animal experiments have confirmed that mesenchymal stem cells can inhibit motor neuron apoptosis and inflammatory factor expression and increase neurotrophic factor expression. Therefore, mesenchymal stem cells have been shown to exhibit prospects in the treatment of amyotrophic lateral sclerosis. However, the safety of their clinical application needs to be validated. Read More

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February 2019
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Oxidative stress: the lowest common denominator of multiple diseases.

Neural Regen Res 2019 Feb;14(2):238-241

Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, University Hospital Essen, Essen, Germany.

Oxygen is essential to the human life and life of all aerobic organisms. The complete oxidation of nutrients for the biological energy supply is one of the most important prerequisites for the formation of higher life forms. However, cells that benefit from oxidative respiration also suffer from reactive oxygen species because they adapted to oxygen as an energy source. Read More

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February 2019
0.234 Impact Factor

Amyotrophic lateral sclerosis: a complex syndrome that needs an integrated research approach.

Neural Regen Res 2019 Feb;14(2):193-196

CIBERNED (Center for Networked Biomedical Research on Neurodegenerative Diseases, Ministry of Economy and Competitiveness, Institute Carlos III), Madrid; Neurosciences Area, Institute Biodonostia; Department of Neurology, University Hospital Donostia, San Sebastián, Spain; Department of Neurosciences, University of the Basque Country, Universidad País Vasco-Euskal Herria Unibertsitatea, San Sebastián, Spain.

Amyotrophic lateral sclerosis, the most common neurodegenerative disease affecting motor neurons, lacks an effective treatment. A small fraction of amyotrophic lateral sclerosis cases have a familial origin, related to mutations in causative genes, while the vast majority of amyotrophic lateral sclerosis cases are considered to be sporadic, resulting from the interaction between genes and environmental factors in predisposed individuals. During the past few years, dozens of drugs have been postulated as promising strategies for the disease after showing some beneficial effects in preclinical cellular and murine models. Read More

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February 2019

Amyotrophic lateral sclerosis as a synaptopathy.

Neural Regen Res 2019 Feb;14(2):189-192

Department of Physiology and Biomedical Engineering, Mayo Clinic, Rochester, MN, USA; School of Biomedical Sciences, The University of Queensland, St. Lucia, Australia.

The synapse is an incredibly specialized structure that allows for the coordinated communication of information from one neuron to another. When assembled into circuits, steady streams of excitatory and inhibitory synaptic activity shape neural outputs. At the organismal level, ensembles of neural networks underlie behavior, emotion and memory. Read More

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February 2019

Tau imaging detects distinctive distribution of tau pathology in ALS/PDC on the Kii Peninsula.

Neurology 2018 Dec 7. Epub 2018 Dec 7.

From the Departments of Functional Brain Imaging Research (H. Shinotoh, H. Shimada, K.T., S.K., M.O., Y. Kimura, S.H., M.I., N.S., T.S., M.H.) and Radiopharmaceuticals Development (M.-R.Z.), National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba; Neurology Clinic Chiba (H. Shinotoh); Kii ALS/PDC Research Center (Y. Kokubo), Mie University; Department of Neurology and Gerontology (F.N.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Psychiatry (S.K.), Nara Medical University; Division of Neurology (H.E.), Kobe University Graduate School of Medicine, Hyogo; Center for Development of Advanced Medicine for Dementia, Department of Neurology (Y. Kimura), National Institute for Geriatrics and Gerontology, Aichi; Department of Neurology (S.H.), Chiba University; and Department of Neuropathology (M.M.), Institute for Medical Science of Aging, Aichi Medical University, Japan.

Objective: To characterize the distribution of tau pathology in patients with amyotrophic lateral sclerosis/parkinsonism dementia complex on the Kii Peninsula (Kii ALS/PDC) by tau PET using [C]PBB3 as ligand.

Methods: This is a cross-sectional study of 5 patients with ALS/PDC and one asymptomatic participant with a dense family history of ALS/PDC from the Kii Peninsula who took part in this study. All were men, and their age was 76 ± 8 (mean ± SD) years. Read More

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December 2018

Pregnancy 5 Years After Onset of Amyotrophic Lateral Sclerosis Symptoms: A Case Report and Review of the Literature.

J Obstet Gynaecol Can 2018 Dec 7. Epub 2018 Dec 7.

Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON.

Background: Pregnancy in patients with amyotrophic lateral sclerosis (ALS) is extremely rare and often results in delivery of a healthy baby when patients are in the early stages of the disease.

Case: This report describes the case of a successful pregnancy 5 years after ALS onset. Significant worsening of weakness, unsteady balance, and dysphagia were noticed around the third trimester. Read More

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December 2018

Motor Unit Number Index (MUNIX) of hand muscles is a disease biomarker for adult spinal muscular atrophy.

Clin Neurophysiol 2018 Nov 24. Epub 2018 Nov 24.

Department of Neurology, Technische Universität Dresden, Dresden, Germany; German Center for Neurodegenerative Diseases (DZNE), Dresden, Germany. Electronic address:

Objective: There is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed.

Methods: We studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics. Read More

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November 2018

Abnormal topological organization of structural covariance networks in amyotrophic lateral sclerosis.

Neuroimage Clin 2018 Nov 30. Epub 2018 Nov 30.

Department of Radiology, Chongqing University Cancer Hospital, Chongqing Cancer Institute, Chongqing Cancer Hospital, Chongqing 400030, PR China; Key Laboratory for Biorheological Science and Technology of Ministry of Education (Chongqing University), Chongqing University Cancer Hospital, Chongqing Cancer Institute, Chongqing Cancer Hospital, Chongqing 400044, PR China. Electronic address:

Neuroimaging studies of patients with amyotrophic lateral sclerosis (ALS) have shown widespread alterations in structure, function, and connectivity in both motor and non-motor brain regions, suggesting multi-systemic neurobiological abnormalities that might impact large-scale brain networks. Here, we examined the alterations in the topological organization of structural covariance networks of ALS patients (N = 60) compared with normal controls (N = 60). We found that structural covariance networks of ALS patients showed a consistent rearrangement towards a regularized architecture evidenced by increased path length, clustering coefficient, small-world index, and modularity, as well as decreased global efficiency, suggesting inefficient global integration and increased local segregation. Read More

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November 2018

Frontotemporal dementia spectrum: first genetic screen in a Greek cohort.

Neurobiol Aging 2018 Nov 3. Epub 2018 Nov 3.

Department of Psychiatry and Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. Electronic address:

Frontotemporal dementia (FTD) is a heterogeneous group of neurodegenerative syndromes associated with several causative and susceptibility genes. Herein, we aimed to determine the incidence of the most common causative dementia genes in a cohort of 118 unrelated Greek FTD spectrum patients. We also screened for novel possible disease-associated variants in additional 21 genes associated with FTD or amyotrophic lateral sclerosis. Read More

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November 2018