Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology.

Atypical Motor Neuron Disease variants: Still a diagnostic challenge in Neurology. Rev Neurol (Paris). 2019 Mar 04;: Authors: Pinto WBVR, Debona R, Nunes PP, Assis ACD, Lopes CG, Bortholin T, Dias RB, Naylor FGM, Chieia MAT, Souza PVS, Oliveira ASB Abstract Motor neuron disease (MND) represents a wide and heterogeneous expanding group of disorders involving the upper or lower motor neurons, mainly represented by amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy. Primary motor neuronopathies are characterized by progressive degenerative loss of anterior horn cell motoneurons (lower motor neurons) or loss of giant pyramidal Betz cells (upper motor neurons). Despite its well-known natural history, pathophysiological and clinical characteristics for the most common MND, atypical clinical presentation and neurodegenerative mechanisms are commonly observed in rare clinical entities, so-called atypical variants of MND-ALS, including flail-leg syndrome, flail-arm syndrome, facial-onset sensory and motor neuronopathy (FOSMN), finger extension weakness and downbeat nystagmus (FEWDON-MND) and long-lasting and juvenile MND-ALS. Herein, we provide a review article presenting clinical, genetic, pathophysiological and neuroimaging findings of atypical variants of MND-ALS in clinical practice. PMID: 30846210 [PubMed - as supplied by publisher]
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research

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Conclusion The key problem with the ND field is the lack of understanding in the events preceding the development of protein-based markers – such as Tau – currently used to diagnose NDs. By this stage, the diseases become more difficult to treat. SncRNAs play an important regulatory role in the maintenance of the homeostatic brain. Therefore, changes in their concentration levels can be indicative of mechanistic changes that could precede protein-based markers. One single sncRNA biomarker is unlikely to differentiate between diseases. However, a combination of sncRNA biomarkers could be illustrative of the me...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Publication date: Available online 23 April 2019Source: Seminars in Cell &Developmental BiologyAuthor(s): Cinzia Volonté, Susanna Amadio, Paola Fabbrizio, Savina ApolloniAbstractToday neuroscience is dominated by the perspective that microglia are essential elements in any integrated view of the nervous system. A number of different neuroinflammatory conditions affect the CNS where microglia involvement, and particularly microgliosis, is not only a prominent feature, but also a pathogenic key mechanism of disease. On the other side, microglia can also constitute an important trigger of neuronal protection during...
Source: Seminars in Cell and Developmental Biology - Category: Cytology Source Type: research
In amyotrophic lateral sclerosis (ALS), the “zebra sign” in the precentral gyrus on phase difference enhanced magnetic resonance imaging (PADRE) recently has been reported as a possible imaging biomarker for upper motor neuron (UMN) involvement. A previous study has shown that the “zebra sign” allowed us to differentiate patients with ALS from healthy subjects with excellent accuracy. We validated the usefulness of the sign for differentiating patients with ALS from healthy subjects and investigated whether the “zebra sign” can be observed other neurodegenerative disorders with UMN involvement.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research
This study was carried out in accordance with the recommendations of the National Animal Care and Use Committee of the University of Buenos Aires (CICUAL). The protocol was approved by the CICUAL. Mice were kept under a 12-h light/dark cycle, with controlled temperature (23 ± 2°C) and humidity (40–60%) and had ad libitum access to food and water. To produce hTDP-43 transgenic lines, as described previously (Igaz et al., 2011), pronucleus of fertilized eggs from C57BL/6J × C3HeJ F1 matings were injected with a vector containing hTDP-43-WT cDNA. Monogenic tetO-TDP-WT12 mice wer...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Authors: Connors K, Mahony L, Morgan P Abstract BACKGROUND: Assistive devices enhance independence and quality of life for people living with motor neuron disease (MND), but prescription can be challenging. OBJECTIVE: Improved prescription of assistive devices, through improved understanding of the relationship between clinical phenotypes, Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised (ALSFRS-R) functional domain sub-scores and assistive technology required by people living with MND. METHODS: Prospective, observational consecutive-sample study of 269 patients with MND diagnosis. MAIN O...
Source: NeuroRehabilitation - Category: Rehabilitation Tags: NeuroRehabilitation Source Type: research
In the 1980s the United States Marine Corps had an advertising campaign built around the phrase, "The Marines are looking for a few good men" (figure 1). This non-gender-neutral slogan would probably not succeed today, but the sentiment could be applied toward the care of amyotrophic lateral sclerosis (ALS). We're looking for a few good pulmonologists. ALS is a progressive neuromuscular disease in which there is degeneration of both upper and lower motor neurons, leading to diffuse muscle weakness and spasticity. It is commonly known as Lou Gehrig's disease in the USA, and motor neurone disease in the UK. As ALS ...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Editorials Source Type: research
AbstractAquaporin 4 (AQP4) is a primary water channel found on astrocytes in the central nervous system (CNS). Besides its function in water and ion homeostasis, AQP4 has also been documented to be involved in a myriad of acute and chronic cerebral pathologies, including autoimmune neurodegenerative diseases. AQP4 has been postulated to be associated with the incidence of a progressive neurodegenerative disorder known as amyotrophic lateral sclerosis (ALS), a disease that targets the motor neurons, causing muscle weakness and eventually paralysis. Raised AQP4 levels were noted in association with vessels surrounded with sw...
Source: Neurological Sciences - Category: Neurology Source Type: research
Conclusions: We demonstrated in the SOD1G93A model of ALS that increased levels of several cytokines were associated with a shorter lifespan. However, their role as prognostic biomarkers is unclear as their expression was very variable depending on both the disease stage and the subject. Nevertheless, cytokines may be potential therapeutic targets. Introduction Amyotrophic Lateral Sclerosis (ALS) is one of the most common rare diseases of unknown origin that leads to progressive motor neuron degeneration and muscle denervation (1). In particular, it has been described that either distal axonopathy or neuromuscular ju...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusions The momentous advances in spinal imaging in ALS suggest the spinal metrics may soon be used as validated diagnostic, monitoring, and prognostic markers, contributing both to individualized patient care and pharmacological trials. Author Contributions ME, GQ, PB, and P-FP contributed equally to the conceptualization, drafting, and revision of the manuscript. Funding Peter Bede is supported by the Health Research Board (HRB—Ireland; HRB EIA-2017-019), the Iris O'Brien Foundation, the Irish Institute of Clinical Neuroscience IICN—Novartis Ireland Research Grant, and the Research Motor Neur...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
The objectives were to determine the frequency and to compare the demographic and clinical characteristics of patients with ALS and ALSms in our ALS clinic. We retrospectively studied all patients evaluated from 2007 to 2017 including only patients with a definite final diagnosis. Out of 368 patients with motor neuron disease symptomatology, 43 (11.7%) had an ALSms. The most frequent etiology was compressive myelopathy (32.6%). Multivariate analysis considering positive associations was statistically significant for patients having only upper or lower motor neuron signs in the physical examination, a non-compatible electro...
Source: Acta Neurologica Belgica - Category: Neurology Source Type: research
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