Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

Publication date: Available online 26 March 2018 Source:The Lancet Neurology Author(s): Henk-Jan Westeneng, Thomas P A Debray, Anne E Visser, Ruben P A van Eijk, James P K Rooney, Andrea Calvo, Sarah Martin, Christopher J McDermott, Alexander G Thompson, Susana Pinto, Xenia Kobeleva, Angela Rosenbohm, Beatrice Stubendorff, Helma Sommer, Bas M Middelkoop, Annelot M Dekker, Joke J F A van Vugt, Wouter van Rheenen, Alice Vajda, Mark Heverin, Mbombe Kazoka, Hannah Hollinger, Marta Gromicho, Sonja Körner, Thomas M Ringer, Annekathrin Rödiger, Anne Gunkel, Christopher E Shaw, Annelien L Bredenoord, Michael A van Es, Philippe Corcia, Philippe Couratier, Markus Weber, Julian Grosskreutz, Albert C Ludolph, Susanne Petri, Mamede de Carvalho, Philip Van Damme, Kevin Talbot, Martin R Turner, Pamela J Shaw, Ammar Al-Chalabi, Adriano Chiò, Orla Hardiman, Karel G M Moons, Jan H Veldink, Leonard H van den Berg Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor neuron disease with a variable natural history. There are no accurate models that predict the disease course and outcomes, which complicates risk assessment and counselling for individual patients, stratification of patients for trials, and timing of interventions. We therefore aimed to develop and validate a model for predicting a composite survival endpoint for individual patients with ALS. Methods We obtained data for patients from 14 specialised ALS centres (each one designat...
Source: The Lancet Neurology - Category: Neurology Source Type: research

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AbstractInsoluble aggregates containing TDP-43 are widely observed in the diseased brain, and defined as “TDP-43 pathology” in a spectrum of neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), Alzheimer’s disease and ALS with frontotemporal dementia. Here we report that Betz cells of patients with TDP-43 pathology display a distinct set of intracellular defects especially at the site of nuclear membrane, mitochondria and endoplasmic reticulum (ER). Numerous TDP-43 mouse models have been generated to discern the cellular and molecular basis of the disease, but mechanisms of neuronal vu...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
ConclusionsThe enlargement of the WTV found in the different MND phenotypes is attributable to the subcortical grey matter atrophy and is associated with cognitive and behavioural impairment. Larger longitudinal studies are needed to determine its role as biomarker in MND patients with frontotemporal dementia.
Source: Acta Neurologica Scandinavica - Category: Neurology Authors: Tags: ORIGINAL ARTICLE Source Type: research
ger V Abstract Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (SMAJ). SMAJ is a slowly progressive form of spinal muscular atrophy with a life expectancy within normal range. In order to understand why the p.Ser59Leu mutation, responsible for severe FTD-ALS, and the p.Gly66Val mutation could lead to different levels of severity, we compared their effects in patient cells. Unlike affected individuals bearing the p.Se...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Publication date: Available online 4 April 2018Source: Neuroscience LettersAuthor(s): Dao K.H. Nguyen, Ravi Thombre, Jiou WangAbstractAge-dependent neurodegenerative diseases are associated with a decline in protein quality control systems including autophagy. Amyotrophic lateral sclerosis (ALS) is a motor neuron degenerative disease of complex etiology with increasing connections to other neurodegenerative conditions such as frontotemporal dementia. Among the diverse genetic causes for ALS, a striking feature is the common connection to autophagy and its associated pathways. There is a recurring theme of protein misfoldin...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
CONCLUSIONS: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research. PMID: 29886477 [PubMed - as supplied by publisher]
Source: Dementia and Geriatric Cognitive Disorders - Category: Psychiatry Tags: Dement Geriatr Cogn Disord Source Type: research
Conclusions: The MND-FTD patients frequently displayed a distinctive motor pattern characterized by weakness and atrophy in distal upper limb muscles and dysphagia, with no or little spreading to other regions. These features may help to define specific subgroups of patients, which is important with regard to clinical management, outcome, and research.Dement Geriatr Cogn Disord 2018;45:220 –231
Source: Dementia and Geriatric Cognitive Disorders - Category: Geriatrics Source Type: research
AbstractAimTo investigate whether primary lateral sclerosis (PLS) represents part of the amyotrophic lateral sclerosis –frontotemporal dementia (ALS–FTD) spectrum of diseases.MethodsComprehensive assessment was taken on 21 patients with PLS and results were compared to patients diagnosed with pure motor ALS (n = 27) and ALS–FTD (n = 12). Clinical features, Addenbrooke’s Cognitive Examination (ACE) scores, Motor Neuron Disease Behaviour (Mind-B) scores, motor disability on the ALS functional rating scale (ALSFRS) and survival times were documented. Motor cortex excitabilit...
Source: Journal of Neurology - Category: Neurology Source Type: research
Primary lateral sclerosis (PLS), a rare upper motor neuron disorder, remains a debated entity as an upper motor neuron extreme form of amyotrophic lateral sclerosis (ALS) or a distinct disease. It is now well established that ALS and frontotemporal dementia (FTD) lie on two ends of the frontal neurodegenerative spectrum. While early descriptions of PLS excluded cognitive dysfunction, there is accumulating evidence of varying degrees of frontal lobe deficits accompanying structural and functional changes in the brain in PLS.
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research
In this study, we investigated the presence of the G4C2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/motor neuron disease patients (11.8% of familial and 3.6% of sporadic cases) and in 7.1% of pure familial FTD.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Tags: Genetic reports abstract Source Type: research
In this study, we investigated the presence of the G4C2 repeat expansion in 463 Brazilian probands, of whom 404 had ALS/motor neuron disease (ALS/MND) and 67 FTD, and in 63 healthy controls in the southeastern region of Brazil. The highest frequencies of the C9orf72 mutation were in the ALS-FTD group (50% of familial and 17.6% of sporadic cases), although it was also present in 5% of pure ALS/MND patients (11.8% of familial and 3.6% of sporadic cases) and in 7.1% of pure familial FTD.
Source: Neurobiology of Aging - Category: Neuroscience Authors: Tags: Brief communication Source Type: research
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