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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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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 (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
AbstractIn addition to motor neurone degeneration, up to 50% of amyotrophic lateral sclerosis (ALS) patients present with cognitive decline. Understanding the neurobiological changes underlying these cognitive deficits is critical, as cognitively impaired patients exhibit a shorter survival time from symptom onset. Given the pathogenic role of synapse loss in other neurodegenerative diseases in which cognitive decline is apparent, such as Alzheimer ’s disease, we aimed to assess synaptic integrity in the ALS brain. Here, we have applied a unique combination of high-resolution imaging of post-mortem tissue with neurop...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
Chronic traumatic encephalopathy (CTE) is the neurodegenerative disease of the moment, made famous by the violent and untimely deaths of many retired professional athletes. Repeated blows to the head sustained in contact sports such asboxing and American football can result in abnormal accumulations oftau protein (usually many years later). The autopsied brains from two of these individuals are shown below.Left: courtesy of Dr. Ann McKee inNYT. Right: courtesy of Dr. Bennett Omalu inCNN. These are coronal sections1 from the autopsied brains of: (L) Aaron Hernandez, aged 27; and(R) Fred McNeill, aged 63.Part 1 of this ...
Source: The Neurocritic - Category: Neuroscience Authors: Source Type: blogs
Amyotrophic lateral sclerosis (ALS) affects approximately 1 in 400 adults of western European ancestry, making it the most common degenerative disease of the motor neuron network. ALS has a mean age at onset of 65 and 85%–90% of cases occur sporadically. Ten to fifteen percent of cases have a recognized genetic contribution, usually in known ALS gene-carrying families.1 In populations of European extraction, the commonest cause of familial ALS, accounting for up to 40% of familial cases, is the C9orf72 hexanucleotide repeat expansion.2 C9orf72 has a broader associated phenotype including frontotemporal dementia and a...
Source: Neurology - Category: Neurology Authors: Tags: EDITORIALS Source Type: research
The high incidence of amyotrophic lateral sclerosis (ALS) and parkinsonism‐dementia complex (PDC) has been previously known in the Kii Peninsula of Japan and in Guam. Recently, the accumulation of various proteins, such as tau, trans‐activation response DNA binding protein 43 kDa (TDP‐43), and alpha‐synuclein (αSyn), was reported in the brains of patients with ALS/PDC in Guam. To confirm whether similar findings are present in Kii ALS/PDC, we neuropathologically examined the brains and spinal cords of 18 patients with ALS/PDC (clinical diagnoses: eight ALS and 10 PDC) in Hohara Village, which is the ea...
Source: Neuropathology - Category: Neurology Authors: Tags: Symposium: Comorbid pathologies of neurodegenerative diseases Source Type: research
Frontotemporal dementia (FTD), the second most common form of dementia in people under 65 years of age, is characterized by progressive atrophy of the frontal and/or temporal lobes. FTD overlaps extensively with the motor neuron disease amyotrophic lateral sclerosis (ALS), especially at the genetic level. Both FTD and ALS can be caused by many mutations in the same set of genes; the most prevalent of these mutations is a GGGGCC repeat expansion in the first intron of C9ORF72. As shown by recent intensive studies, some key cellular pathways are dysregulated in the ALS-FTD spectrum disorder, including autophagy, nucleoc...
Source: EMBO Journal - Category: Molecular Biology Authors: Tags: Molecular Biology of Disease, Neuroscience Review Source Type: research
Primary lateral sclerosis (PLS) is a rare variant of motor neuron disease (MND) characterised by selective upper motor neuron features whose causes and pathogenic mechanisms remain largely unknown. While some familial cases of childhood to young–adult onset with recessive transmission have been reported in association with mutations in the Alsin, SPG11 and SPG7 genes,1 most adult cases occur sporadically. Recently, Tank-binding kinase 1 (TBK1) mutations have been identified in 1.9% of frontotemporal dementia(FTD) and/or Amyotrophic lateral sclerosis (ALS) cohorts.2 However, pathogenicity of many TBK1 missense mutatio...
Source: Journal of Neurology, Neurosurgery and Psychiatry - Category: Neurosurgery Authors: Tags: PostScript Source Type: research
AbstractAccurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer ’s disease...
Source: Brain - Category: Neurology Source Type: research
Publication date: 2017 Source:Handbook of Clinical Neurology, Volume 145 Author(s): Tibor Hortobágyi, Nigel J. Cairns Amyotrophic lateral sclerosis (ALS) is the major motor neuron disorder. The hallmark features are progressive, irreversible motor neuron loss leading to denervation atrophy of muscles and death, usually within 5 years of disease onset. The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43, or FUS; rarely the disease is caused by mutation of the respective genes. Frontotemporal lobar degeneration (FTLD) is genetically, neuropathologically, and clinically heterogeneous and may presen...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
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