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Dissertations / Theses on the topic 'Sporadic amyotrophic lateral sclerosis'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Gros-Louis, François. "Genetics of familial and sporadic amyotrophic lateral sclerosis." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111859.

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Diseases affecting motor neurons, such as amyotrophic lateral sclerosis (Lou Gerhig's disease), hereditary spastic paraplegia and spinal bulbar muscular atrophy (Kennedy's disease) form a heterogeneous group of chronic progressive diseases and are among the most puzzling yet untreatable illnesses. Over the last decade identification of mutations in genes predisposing to these disorders has provided the means to better understand their pathogenesis. The discovery 13 years ago of SOD1 mutations linked to ALS, which account for less than 2% of all cases, had a major impact in the field. However,

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2

Forsberg, Karin. "Misfolded superoxide dismutase-1 in sporadic and familial Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Patologi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-47550.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. ALS is not a pure motor neuronal syndrome; it extends beyond the motor system and affects extramotor areas of the brain as well. The majority of the patients suffer from a sporadic ALS disease (SALS) while in at least ten percent

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3

Morrice, Jessica Rebecca Marie. "Modeling sporadic amyotrophic lateral sclerosis (sals) in zebrafish using environmental stressors." Thesis, University of British Columbia, 2017. http://hdl.handle.net/2429/62666.

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Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of upper and lower motor neurons. The majority of ALS patients are considered of unknown origin, termed sporadic, and are largely assumed to arise from environmental insults. Despite this, research to date has been heavily focused on genetic models of the disease, which represent 10% of ALS cases. Research has made disappointing progress with elucidating disease initiating mechanisms and therapeutic translation in patients. Sporadic ALS (sALS) models may provide substantially more applicable insight into dise

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4

Kostesky, Trisha Ehren. "A study of potential sporadic amyotrophic lateral sclerosis biomarkers in cerebrospinal fluid." Thesis, University of British Columbia, 2011. http://hdl.handle.net/2429/35690.

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Sporadic Amyotrophic Lateral Sclerosis (sALS) is a debilitating and fatal neurodegenerative disease of unknown etiology. It currently has no biochemical marker to confirm a clinical diagnosis, and this has negative consequences for patients when it comes to initiating early medical intervention and participating in therapeutic trials. Valid biomarkers can be useful for diagnostic and prognostic indications as well as providing insight into disease pathogenesis and identifying targets for therapeutic interventions. Cerebrospinal fluid (CSF) may be a particularly valuable source of biomarkers be

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5

Simpson, Claire Louise. "A genome-wide, gene density targeted association study in sporadic amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.428722.

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6

BENEDETTI, S. DE. "SPORADIC AMYOTROPHIC LATERAL SCLEROSIS IN PATIENTS WITH COMMON GEOGRAPHICAL ORIGIN: A MULTIDISCIPLINARY STUDY." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/486489.

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Amyotrophic Lateral Sclerosis (ALS) is a late onset, fatal, neurodegenerative disorder that selectively affects motor neurons. It leads to the degeneration of both upper and lower motor neurons, respectively in the motor cortex and in the brainstem and spinal cord. Different mechanisms have been proposed to explain the pathogenesis of the disease: protein aggregation, oxidative stress, impairment of mitochondrial function, transcription dysfunctions, alterations in the proteasome pathway, inflammation and excitotoxicity. A wide phenotypical variability is described, likely attributable to a c

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7

Wong, Nelson K. Y. "Expression of nitric oxide synthase in cervical spinal cord in sporadic amyotrophic lateral sclerosis." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape17/PQDD_0007/MQ32522.pdf.

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8

Vicars, Caitlyn. "Investigating short structural variants within FUS, RAB27B and TARDBP for associations with sporadic amyotrophic lateral sclerosis." Thesis, Vicars, Caitlyn (2022) Investigating short structural variants within FUS, RAB27B and TARDBP for associations with sporadic amyotrophic lateral sclerosis. Honours thesis, Murdoch University, 2022. https://researchrepository.murdoch.edu.au/id/eprint/66200/.

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Over the past decade, 90% of amyotrophic lateral sclerosis (ALS) clinical trials have failed. Furthermore, 90% of sporadic cases have unknown genetic cause. Short structural variants (sSVs) are repetitive genomic regions implicated in complex diseases, with the potential to be utilised for clinical trial enrichment. The purpose of this study was to investigate sporadic ALS (sALS) missing heritability via interrogating novel sSVs, and to determine their potential as genetic biomarkers. This project aimed to develop assays for characterisation and high-throughput genotyping of sSVs within ALS-li

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9

Ayaki, Takashi. "Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant." Kyoto University, 2015. http://hdl.handle.net/2433/200437.

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10

Jackson, Mandy. "Screening of familial and sporadic amyotrophic lateral sclerosis patients for mutations in CuZn superoxide dismutase (SOD-1) and other candidate genes." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363787.

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11

Flowers, Joanna Mary. "Molecular studies in amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397027.

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12

Schymick, Jennifer. "The genetics of amyotrophic lateral sclerosis." Thesis, University of Oxford, 2009. http://ora.ox.ac.uk/objects/uuid:f68f15c2-2875-46ba-bf25-8324c1dead91.

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Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. There is no cure for ALS and no definitive explanation for the onset and rapid progression of motor neuron degeneration. Genetics is a known risk factor for a portion of familial cases. However, the role of genetics in the commoner sporadic form of the disease is poorly understood, although numerous genes have been implicated. The primary aim of this thesis project is to uncover the genetic causes that underlie

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13

Tjust, Anton. "Extraocular Muscles in Amyotrophic Lateral Sclerosis." Doctoral thesis, Umeå universitet, Anatomi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-129638.

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Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease of motor neurons characterized by muscle paralysis and death within 3-5 years of onset. However, due to unknown mechanisms, the extraocular muscles (EOMs) remain remarkably unaffected. The EOMs are highly specialized muscles that differ from other muscles in many respects, including innervation and satellite cells (SCs). Understanding whether these factors play a role in the relative sparing of EOMs in ALS could provide useful clues on how to slow down the progression of ALS in other muscles. The EOMs and limb muscle

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14

Valbuena, Gabriel. "Metabolomic studies of amyotrophic lateral sclerosis." Thesis, Imperial College London, 2015. http://hdl.handle.net/10044/1/49719.

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Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive neurodegenerative disease, and is fatal within 3-5 years of onset. Metabolic dysfunctions have consistently been identified in ALS, although its role in pathogenesis remains unclear. In this thesis, I apply a metabolomic approach using 1H NMR spectroscopy and Gas Chromatography-Mass Spectrometry in a range of disease models of increasing biological complexity, as well as patient tissues, in order to reveal perturbations to the metabolic network that may impact the course of the disease. I examined alterations to metabolism in th

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15

Seals, Ryan M. "Risk Factors for Amyotrophic Lateral Sclerosis." Thesis, Harvard University, 2015. http://nrs.harvard.edu/urn-3:HUL.InstRepos:23205175.

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Amyotrophic lateral sclerosis (ALS) is a progressive debilitating disease of the upper and lower motor neurons. Median survival of ALS patients is consistently estimated at between 2-3 years from symptom onset, with some evidence that survival is increasing due to improved care. There are few well-established risk factors for ALS, and there is conflicting evidence regarding the trends in ALS incidence and mortality over the past several decades. In Chapter I we investigate the trends in ALS incidence and mortality in Denmark between 1970 and 2009. We employed age-period-cohort models to model

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16

Fang, Fang. "Epidemiologic studies of amyotrophic lateral sclerosis." Stockholm, 2010. http://diss.kib.ki.se/2010/978-91-7409-671-2/.

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17

Johnston, Pamela. "Echovirus aetiology in amyotrophic lateral sclerosis." Thesis, Glasgow Caledonian University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.688246.

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18

McHenry, Kristen L. "Respiratory Compromise in Amyotrophic Lateral Sclerosis." Digital Commons @ East Tennessee State University, 2017. https://dc.etsu.edu/etsu-works/2539.

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19

Jonsson, P. Andreas. "Superoxide dismutase 1 and amyotrophic lateral sclerosis." Doctoral thesis, Umeå : Medical Biosciences, 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-611.

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20

Enayat, Zinat Ellaheh. "Superoxide dismutase mutations and amyotrophic lateral sclerosis." Thesis, King's College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.400500.

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21

Mather, Mary Srikanti. "Putative protein abnormalities in amyotrophic lateral sclerosis." Thesis, University of Sussex, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.239078.

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22

Sundara, Rajan Sandeep. "Role of peroxiredoxins in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2013. http://etheses.whiterose.ac.uk/3784/.

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23

Puigdomenech, Poch Maria. "Development of therapeutic strategies for amyotrophic lateral sclerosis." Doctoral thesis, Universitat Autònoma de Barcelona, 2020. http://hdl.handle.net/10803/670740.

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L’esclerosis lateral amiotròfica (ELA) és una malaltia neurodegenerativa devastadora, per la qual actualment no existeix cap tractament. L’ELA es caracteritza per la pèrdua progressiva de motoneurones (MN) tan superiors com inferiors i la consegüent atrofia muscular. A dia d’avui es desconeix el mecanisme molecular específic que promou la mort de les MN, però s’ha relacionat amb diferents processos que inclouen tant les MN com les cèl·lules del voltant com pot ser l’estrès oxidatiu, la inflamació o l’agregació de proteïnes com la superòxid dismutasa 1 (SOD1). En aquesta tesis nosaltres propose

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24

Zetterström, Per. "Misfolded superoxide dismutase-1 in amyotrophic lateral sclerosis." Doctoral thesis, Umeå universitet, Klinisk kemi, 2011. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-43898.

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Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. ALS is always fatal, usually through respiratory failure when the disease reaches muscles needed for breathing. Most cases are sporadic, but approximately 5–10% are familial. The first gene to be linked to familial ALS encodes the antioxidant enzyme superoxide dismutase-1 (SOD1). Today, more than 160 different mutations in SOD1 have been found in ALS patients. The mutant SOD1 proteins cause ALS by gain of a toxic property that should be common to al

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25

Wootz, Hanna. "Amyotrophic Lateral Sclerosis – A Study in Transgenic Mice." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-7342.

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26

Ekegren, Titti. "Transmethylation, Polyamines and Apoptosis in Amyotrophic Lateral Sclerosis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3952.

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27

Abalkhail, Halah Abdullah. "Characterisation of a new familial amyotrophic lateral sclerosis." Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419231.

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28

Van, Der Hulst Egberdina Jozefa. "Heterogeneity of cognitive impairment in amyotrophic lateral sclerosis." Thesis, University of Edinburgh, 2012. http://hdl.handle.net/1842/6388.

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This PhD thesis examines the relationship between Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FTD). ALS is a rapidly progressive neurodegenerative movement disorder characterized by muscle weakness, spasticity and abnormal reflexes. In a very small subset of patients (5-15%), ALS is associated with FTD. Furthermore, a larger subset of patients who do not suffer from overt dementia, develop subtle deficits in cognition and behaviour (up to 50%). The changes have mostly been observed in the domains of executive functions, language and behavioural functioning. These observati

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29

Lorente, Pons Alejandro. "Investigation of oligodendroglial pathology in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2017. http://etheses.whiterose.ac.uk/20854/.

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Background: Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disease. TDP-43 is found in pathological protein aggregates in neurons and glia in ALS and it is part of some mRNA transport granules. MBP messenger RNA (mRNA) must be transported to the oligodendrocyte processes for correct myelination. If TDP-43 were part of MBP mRNA transport granules, its aggregation could lead to loss of MBP in the CNS. Additionally, C9orf72 is a gene whose GGGGCC expansion mutation causes ALS. The expansion binds hnRNP-A2, a protein essential for the transport of MBP mRNA. This interaction may

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30

McGoldrick, P. "Investigating new mouse models of amyotrophic lateral sclerosis." Thesis, University College London (University of London), 2013. http://discovery.ucl.ac.uk/1388178/.

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Amyotrophic Lateral Sclerosis (ALS) is a progressive fatal neurodegenerative disease characterised by motor neuron degeneration and muscle denervation, atrophy and eventual paralysis. Approximately 10% of ALS cases are familial, caused by mutations in a range of genes including superoxide dismutase 1 (SOD1), TDP-43 (TARDBP) and fused-in-sarcoma (FUS), although the most common genetic cause of ALS is now thought to be a hexanucleotide repeat in C9ORF72. Mouse models of ALS, most commonly created by overexpressing wildtype or disease-causing mutant human proteins, have been critical for our unde

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31

Figueiredo, Joana Maria Serra de Oliveira Duarte. "The role of microRNAs in amyotrophic lateral sclerosis." Master's thesis, Faculdade de Ciências e Tecnologia, 2011. http://hdl.handle.net/10362/7991.

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Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina<br>MicroRNAs (miRNAs) are emerging as a primary mediator of gene regulation in many different cell types. There is increasing evidence that specific subsets of miRNA play a prominent role in the nervous system, both in development and in specific neurodegenerative diseases. This study aims to elucidate the role of microRNA in selective motor neuron death that is the hallmark of amyotrophic Lateral sclerosis (ALS). Pre-symptomatic time-point was chosen since the levels of miRNAs are highly likely to be altered as

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32

Jones, Ashley Richard. "The genetics and spread of Amyotrophic Lateral Sclerosis." Thesis, King's College London (University of London), 2014. https://kclpure.kcl.ac.uk/portal/en/theses/the-genetics-and-spread-of-amyotrophic-lateral-sclerosis(70f7a2e4-087c-47ec-9a1d-3b69d3e7f2c5).html.

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Our knowledge of the genetic contribution to Amyotrophic Lateral Sclerosis (ALS) is rapidly growing, and there is increasing research into how ALS spreads through the motor system and beyond. This thesis examines how genetic and non-genetic factors in ALS influence its spread. The genetic methods employed were PCR, genotyping, AFLP, DNA sequencing and gene expression. The methods to examine spread were H&E staining, clinical history, age of onset (AOO), survival and health utility. Statistical procedures applied included regression analyses of genetic and non-genetic factors, maximum likel

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33

Caga-Meller, Jashelle. "The Impact of Apathy in Amyotrophic Lateral Sclerosis." Thesis, The University of Sydney, 2018. http://hdl.handle.net/2123/19626.

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Motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) is established as a multisystem neurodegenerative disorder which includes a broad spectrum of cognitive and behavioural symptoms similar to those with behavioural variant frontotemporal dementia (FTD). Behavioural symptoms include perseveration, disinhibition and most commonly apathy. This thesis examined the impact of apathy in ALS, and specifically, its relationship to clinical, patient and caregiver outcomes. Initial studies designed to elucidate the clinical significance of apathy demonstrated that nearly half of patients pr

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34

LOFFREDA, ALESSIA. "RNA Metabolism alteration in amyotrophic lateral sclerosis models." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2014. http://hdl.handle.net/10281/81488.

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Project1: Unraveling the impact of microRNA on Amyotrophic Lateral Sclerosis pathogenesis. Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that specifically affects upper and lower motor neurons leading to progressive paralysis and death. There is currently no effective treatment. Thus, identification of the signaling pathways and cellular mediators of ALS remains a major challenge in the search for novel therapeutics. Recent studies have shown that microRNA have a significant impact on normal CNS development and onset and progression of neurological disorders. Based on th

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35

AROSIO, ALESSANDRO. "Study of transcriptional alterations in Amyotrophic Lateral Sclerosis." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2015. http://hdl.handle.net/10281/94396.

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Amyotrophic Lateral Sclerosis (ALS) is a progressive fatal neuromuscular disease characterized by selective motorneurons loss. Since mutations in TARDBP and FUS genes were discovered to cause familial form of ALS and TDP-43 and FUS proteins play important roles in RNA metabolism, transcriptional alterations emerged as potential pathogenic mechanism. RNA metabolism include several aspects of RNA regulation such as RNA transcription, maturations and regulation. In this study we have investigated two different fields of RNA metabolism: the first one concerns to microRNAs (miRNA) which regulate

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36

Martínez, Muriana Anna. "Modulation of the inflammatory response in amyotrophic lateral sclerosis." Doctoral thesis, Universitat Autònoma de Barcelona, 2018. http://hdl.handle.net/10803/664221.

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L’esclerosi lateral amiotròfica (ELA) és una malaltia neurodegenerativa que causa la paràlisi i la mort dels pacients arrel de la pèrdua de les motoneurones de la medul·la espinal i el cervell. Malauradament, els únics tractaments actuals que hi ha són pal·liatius i no endarrereixen la progressió de la malaltia. Una de les característiques de l’ELA és l’activació aberrant del sistema immunològic: (i) activació de les cèl·lules glials (microglia i astròcits) a nivell del sistema nerviós central i (ii) infiltració dels leucòcits, principalment macròfags, al sistema nerviós perifèric. La respo

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37

Rahmani, Kondori Nazanin. "Developing and testing therapies for Amyotrophic Lateral Sclerosis (ALS)." Thesis, Imperial College London, 2013. http://hdl.handle.net/10044/1/34340.

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Amyotrophic Lateral Sclerosis (ALS) is a lethal motor neuron disorder, characterized by selective and progressive degeneration of both upper and lower motor neurons. Currently the only available drug for the treatment of ALS is Riluzole, which exerts little overall effects. Therefore ALS is currently an untreatable disease. A small proportion (5%) of patients develop the hereditary form of the disease known as familial ALS (FALS), 40% of which are associated with G4C2 hexanucleotide repeat expansion in the C9orf72 gene and 20% with mutations in the SOD1 (copper/zinc superoxide dismutase-1) gen

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38

Wood-Allum, Clare Alison. "Impaired mitochondrial anti-oxidant defence in amyotrophic lateral sclerosis." Thesis, University of Sheffield, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485078.

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In this study a candidate-generating approach was first employed, using proteomics to identify mitochondrial proteins whose expression changed in the presence of mutant SODI in a wellvalidated model of SOD I-related familial amyotrophic lateral sclerosis (ALS). Proteins whose expression changed in a mutant-specific fashion had functions potentially relevant to the pathogenesis of ALS including roles in apoptosis, protein processing and anti-oxidant defence. I then validated selected protein changes of interest by Western blotting in mitochondrial preparations of further NSC34 cells and G93A tr

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39

Lemoignan, Josée. "Decision-making for assisted ventilation in amyotrophic lateral sclerosis." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101862.

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Amyotrophic lateral sclerosis (ALS) is a progressive neurological disease that leads to respiratory compromise and eventually death within two to five years. Even though people with ALS must make many treatment decisions, none has such a significant impact on quality of life and survival as the one pertaining to assisted ventilation. A qualitative research study was undertaken to elicit factors that are pertinent to this decision-making process. Ten individual, semi-structured interviews were conducted with individuals with ALS. Six main themes emerged from the interviews. These are: meaning o

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40

Kieran, Dairin Mary. "Preventing motoneuron degeneration in models of amyotrophic lateral sclerosis." Thesis, University College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.412710.

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41

Ryan, Sarah. "Modelling C9orf72-linked frontotemporal dementia and amyotrophic lateral sclerosis." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/modelling-c9orf72linked-frontotemporal-dementia-and-amyotrophic-lateral-sclerosis(92740fce-3f4a-43cc-afed-b0f40f71ed03).html.

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Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. A GGGGCC hexanucleotide repeat expansion in a non-coding region of C9orf72 on chromosome 9 is the major cause of both FTLD and ALS. An understanding of the mechanisms through which the expansion leads to neurodegeneration will therefore be vital for development of novel therapeutics. There are 3 possible mechanisms through which the GGGGCC expansion may cause toxicity: (i) through haploinsufficiency of C9orf72, (ii) repeti

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42

Kaneb, Hannah Marlene Jostock. "Preclinical testing of potential therapeutics for Amyotrophic Lateral Sclerosis." Thesis, Imperial College London, 2012. http://hdl.handle.net/10044/1/9606.

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Amyotrophic Lateral Sclerosis (ALS) is a fatal neurological disorder caused by the selective degeneration of upper and lower motor neurons, for which there are currently no effective treatments. 10% of ALS cases are familial, of which 15-20% are caused by mutations in the copper/zinc superoxide dismutase gene (SOD1). The primary triggers for motor neuron degeneration in ALS are unknown, but research in patients and SOD1 models has revealed several mechanisms which may contribute. These include: oxidative stress, mitochondrial abnormalities, inflammation and protein aggregation. This study focu

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43

Wesenberg, Judith [Verfasser]. "Temporal lobe pathology in amyotrophic lateral sclerosis / Judith Wesenberg." Magdeburg : Universitätsbibliothek, 2017. http://d-nb.info/1139048422/34.

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44

Kelhetter, Kaitlyn Marie. "Velopharyngeal Function During Speech Production in Amyotrophic Lateral Sclerosis." Thesis, The University of Arizona, 2013. http://hdl.handle.net/10150/297626.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that leads to decreased muscle function resulting in problems with movement, breathing, swallowing, and speech. In the United States, approximately 5,600 people are diagnosed with ALS annually (ALS Association [ALSA], 2010). ALS can attack muscles all over the body, including those in the velopharynx, a muscular valve-like structure located at the back of the oral cavity. In a healthy adult, the velopharynx closes off the passageway to the nasal cavity during speech production to direct air through the mouth rather than through

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45

Prats, Sedano Maria Angeles. "COGNITIVE PROCESSING AND BRAIN COMMUNICATION IN AMYOTROPHIC LATERAL SCLEROSIS." Doctoral thesis, Università degli studi di Padova, 2017. http://hdl.handle.net/11577/3421928.

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Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive paralysis of limbs and bulbar musculature. This severe physical impairment makes cognitive evaluation a big challenge, thus there is a great need for an assessment that does not require overt motor responses. Moreover, we need of augmentative communication strategies because the disease generally leads to complete paralysis and, therefore, patients are unable to communicate with the external world by any means. For this purpose, Brain Computer Interfaces (BCIs) seem a promising approach to fac

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46

Bergemalm, Daniel. "Mutant superoxide dismutase-1-caused pathogenesis in amyotrophic lateral sclerosis." Doctoral thesis, Umeå : Umeå university, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-31116.

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47

Gallart, Palau Xavier Ramon. "Synaptic frailty and mitochondrial dysfunction in familial amyotrophic lateral sclerosis." Doctoral thesis, Universitat de Lleida, 2016. http://hdl.handle.net/10803/386410.

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L’Esclerosi Lateral Amiotròfica (ELA) és una malaltia neurodegenerativa de la motoneurona. Totes les neurones del sistema motor es veuen afectades pel flux degeneratiu en aquesta malaltia des de l’escorça motora primària fins a la junta neuromuscular. Al 1993, la descoberta de mutacions en el gen SOD1 va obrir nous horitzons experimentals amb la creació dels primers rosegadors transgènics per aquesta malaltia. Des d’aquell moment i fins a l’actualitat la mutació més estudiada en l’ELA ha estat la SOD1-G93A a tot el món. Els models transgènics per aquesta mutació de la SOD1 han revelat mecanism

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48

Xu, Guang. "Identification of Novel Genetic Variations for Amyotrophic Lateral Sclerosis (ALS)." eScholarship@UMMS, 2018. https://escholarship.umassmed.edu/gsbs_diss/958.

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A list of genes have been identified to carry mutations causing familial ALS such as SOD1, TARDBP, C9orf72. But for sporadic ALS, which is 90% of all ALS cases, the underlying genetic variants are still largely unknown. There are multiple genome-wide association study (GWAS) for sporadic ALS, but usually a large number nominated SNP can hardly be replicated in larger cohort analysis. Also majority of GWAS SNP lie within noncoding region of genome, imposing a huge challenge to study their biological role in ALS pathology. With the rapid development of next-generation sequencing technology, we a

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Watts, Stephanie Anne. "Perceptual and Physiologic Analysis of Dystussia in Amyotrophic Lateral Sclerosis." Scholar Commons, 2017. http://scholarcommons.usf.edu/etd/7105.

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Swallowing and cough are two vital functions that are reflexive in nature and are related to each other in terms of shared neural and anatomical space. When a disorder impacts normal and effective swallowing and/or cough, the consequences can be life-threatening. Evaluation and treatment of swallowing and cough disorders can fall under the scope of practice of the speech-language pathologist and speech-language pathologists often are leading professionals. Furthermore, much of the current research on swallowing and cough is spearheaded by speech-language pathologists often

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50

Chen, Yiquan Medical Sciences Faculty of Medicine UNSW. "The involvement of the Kynurenine pathway in amyotrophic lateral sclerosis." Publisher:University of New South Wales. Medical Sciences, 2009. http://handle.unsw.edu.au/1959.4/43774.

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Amyotrophic lateral sclerosis (ALS) is a progressive and fatal motor neuron disease of unclear aetiology, although the general consensus is of a multifactorial disease. The kynurenine pathway (KP), activated during neuroinflammation, is emerging as a possible contributory factor in ALS. The KP is the major route for tryptophan (TRP) catabolism. The intermediates generated can be either neurotoxic, such as quinolinic acid (QUIN), or neuroprotective, such as picolinic acid (PIC), an important endogenous metal chelator. The first and inducible enzyme is indoleamine 2,3-dioxygenase (IDO). As the e

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