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Dissertations / Theses on the topic 'Spastic paraplegia'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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1

Bingley, Megan. "Characterisation of Spastin function in relation to hereditary spastic paraplegia." Thesis, University of Sheffield, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.440916.

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2

Errico, Alessia. "Functional characterization of spastin and its role in hereditary spastic paraplegia." Thesis, Open University, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.402841.

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3

Parodi, Livia. "Identification of genetic modifiers in Hereditary Spastic Paraplegias due to SPAST/SPG4 mutations Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex Hereditary spastic paraplegia: More than an upper motor neuron disease." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS317.

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Les Paraplégies Spastiques Héréditaires (PSHs) sont un groupe de maladies neurodégénératives rares qui surviennent suite à la dégénérescence progressive des voies corticospinales, entraînant une spasticité des membres inférieurs, signe distinctif de la pathologie. Elles se caractérisent par une extrême hétérogénéité qui concerne à la fois les facteurs génétiques et cliniques, ainsi que d’autres aspects de la maladie, tels que l’âge d’apparition et la sévérité des signes. Cette variabilité est typiquement observée chez les patients porteurs de mutations pathogènes dans SPAST, le gène le plus fr

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4

MANCUSO, GIUSEPPE. "Dissecting the pathogenesis of hereditary spastic paraplegia linked to SPG4 and SPG7 genes." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/20207.

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The aim of this thesis is to analyze and characterize the function of two genes involved in Hereditary Spastic Paraplegia, SPG4 and SPG7, to dissect their role in the pathogenesis of the disease. SPG4 encodes for Spastin, a microtubule severing protein involved in cytoskeletal dynamics and subcellular trafficking. On the other hand, SPG7 encodes for Paraplegin, a subunit of the m-AAA protease complex. This protease plays a key role in inner membrane protein quality control and in specific substrate maturation. Studying two genes with different function can shed light on common pathogenetic

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5

Vajente, Nicola. "Impact of ER morphological alterations due to Hereditary Spastic Paraplegia mutants on Ca2+ homeostasis." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3425412.

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In eukaryotic cells, the endoplasmic reticulum (ER) extends as a network of interconnected tubules and sheet-like structures. ER tubules dynamically change their morphology and position within the cell in response to physiological stimuli and these network rearrangements depend on the microtubule (MT) cytoskeleton. Store-operated calcium entry (SOCE) relies on the repositioning of ER tubules to form specific ER-plasma membrane junctions. Indeed, the tips of polymerizing MTs are supposed to provide the anchor for ER tubules to move toward the plasma membrane. However, the precise role of ER and

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6

Oteyza, Andrés de [Verfasser], and Ludger [Akademischer Betreuer] Schöls. "Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58) / Andrés de Oteyza ; Betreuer: Ludger Schöls." Tübingen : Universitätsbibliothek Tübingen, 2016. http://d-nb.info/1165236532/34.

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7

Wali, Gautam. "A Patient-Derived Stem Cell Model of Hereditary Spastic Paraplegia with SPAST mutations." Thesis, Griffith University, 2016. http://hdl.handle.net/10072/367152.

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Hereditary spastic paraplegia (HSP) is an inherited neurological disorder characterised by degeneration of long axons along the corticospinal tract, leading to lower limb spasticity and gait abnormalities. The mechanisms underlying HSP mutations that lead to degeneration of the long axons are unclear. Mutations in the SPAST gene account for the largest group of adult-onset HSP patients. In this thesis, I evaluated olfactory-neurosphere derived (ONS) cells, a population of neural progenitor cells, derived from biopsies of the olfactory mucosa from HSP patients and from healthy controls, in orde

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8

Tsang, Hiu Tung Hilda. "The molecular pathology of NIPA1 associated hereditary spastic paraplegia." Thesis, University of Cambridge, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.611474.

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9

McNamee, J. "Investigating the molecular mechanisms of Hereditary Spastic Paraplegia neuropathies." Thesis, University of Liverpool, 2018. http://livrepository.liverpool.ac.uk/3019569/.

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Hereditary spastic paraplegia (HSP) was first described in the late 1800s and has since become a term used to describe this relatively large, clinically and genetically diverse group of inherited neurodegenerative or neurodevelopmental disorders. HSPs are characterised by progressive lower limb spasticity and pyramidal weakness, caused by genetic mutations. This defining clinical feature is thought to be due to the progressive, length-dependent neuronal degeneration or axonopathy, which predominantly involves the lateral corticospinal tracts. Although unified by their defining clinical feature

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10

Souza, Lúcia Inês Macedo de. "Investigação genética de duas novas doenças neurodegenerativas: síndrome de Spoan (Spastic Paraglegia with Optic Atrophy and Neuropathy) e SPG34." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-06112008-164924/.

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Estudamos duas grandes famílias com manifestações de doenças neurodegenerativas. Uma delas é originária do alto oeste do estado do Rio Grande do Norte e a outra, da região de São José do Rio Preto, SP. A primeira, uma extensa família com tradição de casamentos consangüíneos, apresenta 68 indivíduos afetados pela síndrome a qual nomeamos Spoan (Spastic Paraplegia, Optic Atrophy, Neuropathy). A mesma é uma doença neurodegenerativa de herança autossômica recessiva, caracterizada por atrofia óptica congênita, espasticidade, polineuropatia periférica axonal sensitivo-motora, sobressaltos à

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11

Meijer, Inge A. "Genetic analysis of the hereditary spastic paraplegias." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=102811.

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The Hereditary Spastic Paraplegias (HSP) comprise a group of neurodegenerative diseases characterized by progressive lower limb spasticity. This disease, with a prevalence ranging from 1 to 20 in 100,000 individuals, is currently untreatable. The neuropathological hallmark is axonal degeneration of motor neurons in the corticospinal tract. However, the mechanisms of pathogenesis underlying this neurodegeneration remain poorly understood. Over the last decade, genetic studies of HSP have identified 33 loci including 14 genes. The main objective of this dissertation was to identify and character

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12

Wilkinson, P. "A clinical, genetic and biochemical study of hereditary spastic paraplegia." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1445184/.

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The hereditary spastic paraplegias (HSPs) represent a clinically and genetically heterogeneous group of neurological disorders. The phenotype is classified as pure or uncomplicated when the spastic paraparesis occurs in isolation and complicated when there are significant additional neurological or other clinical features. Inheritance may be autosomal dominant, autosomal recessive or X-linked. Twenty families from the UK were identified with autosomal recessive HSP. Clinical analysis of affected individuals demonstrated a variety of different phenotypes with a slight preponderance of complicat

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13

Ulengin, Idil. "Atlastin Mediated Endoplasmic Reticulum Network Formation In Hereditary Spastic Paraplegia." Research Showcase @ CMU, 2015. http://repository.cmu.edu/dissertations/576.

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The endoplasmic reticulum is an extensive multifunctional membrane bound organelle present in all eukaryotic cells. It houses a wide array of essential processes including protein and lipid synthesis, drug detoxification and regulation of intracellular Ca+2 . This very large organelle is organized into morphologically distinct subdomains, presumably to maximize the efficiency of each of its many functions. Yet the ER is interconnected at hundreds of branchpoints. maintaining both luminal and membrane continuity. Despite its complex structure, the ER undergoes continuous membrane remodeling, wh

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14

Mehdar, Khlood. "Use of the spastin mouse model to suggest novel approaches for the treatment of hereditary spastic paraplegia." Thesis, University of Sheffield, 2017. http://etheses.whiterose.ac.uk/19814/.

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Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurological disorders that are characterised by lower limb spasticity and weakness. Their clinical pathophysiology is degeneration of the corticospinal tract. The most common HSP gene is spastin (SPAST). SPAST encodes a microtubule severing protein. Mutations in SPAST cause reductions in axonal transport that lead to axonal swellings in the corticospinal tract with mitochondrial accumulation. Finding a therapy for HSP is challenging. In this thesis I tested different therapeutic approaches using a spastin mouse model

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15

Lau, En-Lieng. "Molecular analysis of the autosomal dominant spastic paraplegia type IV (SPG4)." [S.l.] : [s.n.], 2001. http://deposit.ddb.de/cgi-bin/dokserv?idn=962848255.

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16

Mongeon, Kevin. "The Study of Hereditary Spastic Paraplegia-Causing Gene DDHD2 Using Cell Models." Thesis, Université d'Ottawa / University of Ottawa, 2018. http://hdl.handle.net/10393/37474.

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Hereditary spastic paraplegia type 54 is a rare autosomal recessive neurological gait disorder characterized by paraplegia, muscle spasticity, and intellectual disability. This length-dependent distal axonopathy is caused by mutations in the DDHD2 gene, which encodes the intracellular phospholipase A1 DDHD2. Little is known about the molecular function of the DDHD2 protein, especially in the context of HSP54. Thus, there is a need to further investigate its molecular functions and investigate the impact of DDHD2 deficiency in disease-relevant cells. Here, lipidomic profiling of dermal fibrobla

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17

Wang, Xinnan. "Neuronal and signaling roles of a Drosophila hereditary spastic paraplegia gene SPG6." Thesis, University of Cambridge, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612846.

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18

Napoli, Barbara. "Endoplasmic reticulum homeostasis, lipid droplets biogenesis and autophagy in Drosophila models of Hereditary Spastic Paraplegia." Doctoral thesis, Università degli studi di Padova, 2019. http://hdl.handle.net/11577/3424789.

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Mutations in the SPG4 gene (Spastin), SPG31 gene (REEP1) and SPG3A gene (Atlastin) are the most common causes of autosomal dominant Hereditary Spastic Paraplegia (HSP), a complex genetic disorder characterized by the axonal degeneration of corticospinal tracts. Interactions between REEP1, Atlastin and Spastin, have a crucial role in modifying ER architecture and lipid metabolism, two important emerging cellular aspects potentially underlying HSP pathological mechanism. The role of lipid droplets (LDs) in HSP has been highlighted by recent evidence that proteins such as Seipin/SPG17, Erlin2/SPG

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19

Sohail, Anood. "Visualizing roles of spastic paraplegia proteins in organizing axonal ER in live Drosophila." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/290113.

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Axons possess a continuous network of smooth tubular endoplasmic reticulum (ER), extending from the nuclear envelope throughout the neuron to synapses. Mutations affecting proteins with intramembrane hairpin domains that model tubular ER membrane can lead to the axon degenerative disease, hereditary spastic paraplegia (HSP). However, the extent and mechanisms by which HSP proteins contribute to axonal ER organization and dynamics are unclear. To understand these mechanisms, there is a need to visualize axonal ER in wild-type and mutant live axons. I have therefore aimed to develop these tools

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20

Cavaçana, Natale. "Estudo genético-molecular de pacientes discordantes de Paraplegia Espástica Hereditária do tipo 4." Universidade de São Paulo, 2014. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-06032015-093012/.

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As doenças neuromusculares incluem um grupo muito heterogêneo de patologias que atingem 1 em cada 1.000 indivíduos nascidos vivos. Dentre as doenças neuromusculares destacam-se as paraplegias espásticas hereditárias que acometem, aproximadamente, cerca de 1 em cada 10.000. As paraplegias espásticas hereditárias (PEH) são caracterizadas pela espasticidade e fraqueza muscular dos membros inferiores. São muito heterogêneas tanto em clínica como geneticamente. Diversas formas já foram descritas e a mais comum delas, acometendo por volta de 40% dos casos autossômicos dominantes, causada por mutaçõe

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21

Angelica, D'Amore. "Next Generation Molecular Studies of Hereditary Spastic Paraplegias in Men and Zebrafish." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1105261.

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The term Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that NGS facilitates the diagnostic approach to HSP, but the power of this method as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity— there are over 80 potential disease-associated genes— and frequent overlap with other

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22

Jouet, Monique Marie Helene. "The molecular genetics of X-linked hydrocephalus." Thesis, Open University, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295639.

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23

Freeman, Caroline Lelia. "The Hereditary Spastic Paraplegia protein strumpellin and the WASH complex in neuronal and non-neuronal cells." Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610660.

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24

Melo, Uirá Souto. "Desvendando as bases moleculares da síndrome SPOAN: deleção em homozigose em região regulatória leva à superexpressão do gene KLC2." Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-13122016-105746/.

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A síndrome SPOAN (acrônimo do inglês spastic paraplegia, optic atrophy and neuropathy) é uma doença neurodegenerativa de herança autossômica recessiva que tem como achados clínicos a atrofia ótica congênita não progressiva, paraplegia espástica e neuropatia ambas progressivas. Ela havia sido mapeada na região cromossômica 11q13, porém a variante patogênica e o gene associados à síndrome não haviam sido identificados. Após execução do sequenciamento do genoma completo de um paciente foi detectada a deleção de 216-pb (chr11.hg19:g.66,024,557_66,024,773del) em homozigose localizada em região regu

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25

Reid, Evan Arthur Leslie. "A clinical and molecular genetic study of autosomal dominant pure hereditary spastic paraplegia : towards cloning the responsible genes." Thesis, University of Cambridge, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.621306.

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26

Buchholz, Frank, Mikołaj Słabicki, Mirko Theis, et al. "A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia." Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2015. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-180795.

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DNA repair is essential to maintain genome integrity, and genes with roles in DNA repair are frequently mutated in a variety of human diseases. Repair via homologous recombination typically restores the original DNA sequence without introducing mutations, and a number of genes that are required for homologous recombination DNA double-strand break repair (HR-DSBR) have been identified. However, a systematic analysis of this important DNA repair pathway in mammalian cells has not been reported. Here, we describe a genome-scale endoribonuclease-prepared short interfering RNA (esiRNA) screen for g

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27

Buchholz, Frank, Mikołaj Słabicki, Mirko Theis, et al. "A Genome-Scale DNA Repair RNAi Screen Identifies SPG48 as a Novel Gene Associated with Hereditary Spastic Paraplegia." Public Library of Science, 2010. https://tud.qucosa.de/id/qucosa%3A28927.

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DNA repair is essential to maintain genome integrity, and genes with roles in DNA repair are frequently mutated in a variety of human diseases. Repair via homologous recombination typically restores the original DNA sequence without introducing mutations, and a number of genes that are required for homologous recombination DNA double-strand break repair (HR-DSBR) have been identified. However, a systematic analysis of this important DNA repair pathway in mammalian cells has not been reported. Here, we describe a genome-scale endoribonuclease-prepared short interfering RNA (esiRNA) screen for g

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28

Mero, Serena. "Study of the molecular characteristics of spastic paraplegia type 11: its impact on oxidative metabolism and response to drugs treatments." Doctoral thesis, Università di Siena, 2022. http://hdl.handle.net/11365/1211494.

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The Hereditary Spastic Paraplegias (HSPs) are inherited neurological disorders characterized by progressive spasticity and pyramidal weakness, predominantly in the lower limbs. Collectively, HSPs are rare conditions affecting any age, and cause important health problems due to gradual functional deterioration, sometimes leading to premature death. Over 80 genes are currently associated with HSPs and the number is still increasing, as well as the clinical features associated with the disease. We focused our study on SPG11-HSP, the most frequent form of autosomal recessive HSP. This is a neurod

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29

Varga, Rita Eva [Verfasser], Christian [Gutachter] Hübner, Christoph [Gutachter] Biskup, and Thomas [Gutachter] Braulke. "Generation and characterization of a murine model for Hereditary Spastic Paraplegia SPG11 / Rita Eva Varga ; Gutachter: Christian Hübner, Christoph Biskup, Thomas Braulke." Jena : Friedrich-Schiller-Universität Jena, 2016. http://d-nb.info/117761331X/34.

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30

Havlicek, Steven [Verfasser], Jürgen [Akademischer Betreuer] Winkler, Kristina [Akademischer Betreuer] Friedland, and Johannes Helmut [Akademischer Betreuer] Brandstätter. "Modelling SPG4-related hereditary spastic paraplegia using human induced pluripotent stem cells / Steven Havlicek. Gutachter: Jürgen Winkler ; Kristina Friedland ; Johannes Helmut Brandstätter." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2014. http://d-nb.info/1054731640/34.

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31

Neto, Miguel Mitne. "Análise in vitro da esclerose lateral amiotrófica tipo 8 e estudo genético da paraplegia espástica 4." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-24052011-112414/.

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As doenças do neurônio motor (DNM) apresentam grande variabilidade clínica e genética. A Esclerose Lateral Amiotrófica (ELA) é a forma mais comum de DNM de início tardio. Sua manifestação devastadora e incurável leva a uma profunda perda da qualidade de vida do paciente. A ELA8 é uma forma autossômica dominante de ELA familial causada por mutações no gene VAPB. A proteína VAPB está envolvida com diversos processos celulares. Nossos dados sugerem que a mutação P56S na VAPB diminui a interação dela com outras duas outras proteínas: Tubulina e GAPDH. Por terem sido previamente relacionadas a outr

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32

Gumeni, Sentiljana. "Exploiting Drosophila as a model system for studying REEP1-linked HSP in vivo." Doctoral thesis, Università degli studi di Padova, 2013. http://hdl.handle.net/11577/3423029.

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Hereditary Spastic Paraplegia (HSP) is a genetic group of neurodegenerative disorders characterized by progressive degeneration of corticospinal tracts. Mutations in the SPG31 gene, encoding REEP1, are the third most common cause of autosomal dominant form of HSP. Recent studies have reported that REEP1, an integral ER membrane protein, interacts with the microtubule cytoskeleton to coordinate ER shaping. However it precise molecular function is still unknown. To better understand the function of REEP1, we generated a model (Drosophila melanogaster) for the in vivo analysis of the fly REEP1 h

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33

Tosetto, Jessica. "Molecular and functional analysis of the Drosophila Dynamin-like GTPase atlastin." Doctoral thesis, Università degli studi di Padova, 2008. http://hdl.handle.net/11577/3425678.

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Mutations in the gene encoding the large oligomeric GTPase Atlastin-1 are responsible for SPG3a, a common autosomal dominant Hereditary Spastic Paraplegia. Recent studies carried out in our laboratory have shown that the Drosophila ortholog of human Atlastin-1 (Datlastin) is required for homotypic fusion of ER membranes. Homotypic fusion activity is critical for the both the biogenesis and maintenance of the ER and a proper ER architecture is essential for ER functionality. Datlastin specifically localizes to ER membranes and alteration of its expression levels in vivo in Drosophila has revea

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34

Mishra, Himanshu Kumar [Verfasser], and Jürgen [Akademischer Betreuer] Winkler. "Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells / Himanshu Kumar Mishra. Gutachter: Jürgen Winkler." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016. http://d-nb.info/1092193731/34.

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Mishra, Himanshu [Verfasser], and Jürgen [Akademischer Betreuer] Winkler. "Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells / Himanshu Kumar Mishra. Gutachter: Jürgen Winkler." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2016. http://d-nb.info/1092193731/34.

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Schneider, Carola Dorothee [Verfasser], and Thomas [Akademischer Betreuer] Gasser. "Spastic paraplegia related loss of Kinesin-1 function causes developmental defects and synapse degeneration in a Drosophila model / Carola Dorothee Schneider ; Betreuer: Thomas Gasser." Tübingen : Universitätsbibliothek Tübingen, 2016. http://d-nb.info/1197694048/34.

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Schneider, Carola [Verfasser], and Thomas [Akademischer Betreuer] Gasser. "Spastic paraplegia related loss of Kinesin-1 function causes developmental defects and synapse degeneration in a Drosophila model / Carola Dorothee Schneider ; Betreuer: Thomas Gasser." Tübingen : Universitätsbibliothek Tübingen, 2016. http://nbn-resolving.de/urn:nbn:de:bsz:21-dspace-680179.

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Davies, Alexandra Katherine. "An investigation of the function of adaptor protein complex 4 (AP-4)." Thesis, University of Cambridge, 2019. https://www.repository.cam.ac.uk/handle/1810/289777.

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Vesicle trafficking provides the solution to the 'sorting problem' - how the eukaryotic cell maintains the distinct identities, and thus functional properties, of its membrane-bound organelles. During vesicle trafficking, proteins are selectively sorted into membrane bound transport intermediates by vesicle adaptors, which include those of the highly conserved adaptor protein (AP) complex family. Each AP complex has a distinct subcellular localisation and functions in the sorting of a specific subset of transmembrane cargo proteins. Adaptor protein complex 4 (AP-4) is one of the more recently

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39

Graciani, Zódja. "Caracterização motora e funcional da paraplegia espástica, atrofia óptica e neuropatia periférica (síndrome Spoan)." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-22032010-172509/.

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Introdução: A síndrome Spoan é uma forma de paraplegia espástica complicada de herança recessiva recentemente identificada em indivíduos originários do sudoeste do estado do Rio Grande do Norte. O quadro clínico é caracterizado por atrofia óptica congênita, paraplegia crural espástica de caráter progressivo e neuropatia axonal levando a perda da função motora em membros superiores. A caracterização fenotípica dessa doença não está completa, e não foram realizados estudos quantitativos e funcionais, que poderiam mensurar a intensidade e contribuir para a definição de uma estratégia de reabilita

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Valdmanis, Paul Nils. "Genetic analysis of amyotrophic lateral sclerosis and other motor neuron disorders." Thesis, McGill University, 2009. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111916.

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Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease which results from the degeneration of upper and lower motor neurons in the brainstem, spinal cord and motor cortex. Tragically there is no treatment to prevent ALS. The drug Riluzole acts to delay progression, but only by a month or so in this disease that has a survival length of three to five years. The identification of genes that are mutated in patients with ALS would help devise novel therapeutic strategies as much remains to be discovered about the genetics of ALS. Familial forms of the disease account for only 5-

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Cooper, Laura. "Mitochondrial heat shock protein 60: evaluation of its role as a neuroprotectant in familial amyotrophic lateral sclerosis and its mutation as a cause of hereditary spastic paraplegia." Thesis, McGill University, 2011. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=104556.

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In the fatal neurodegenerative disease, amyotrophic lateral sclerosis (ALS), protein misfolding and aggregation are involved in motor neuron death. Heat shock proteins (Hsp), which help refold misfolded proteins or target them to the proteasome for degradation, have been studied as a therapeutic target in ALS, with some success. At the same time, it has been shown that mitochondrial dysfunction is one of the earliest pathogenic events leading to motor neuron death in ALS. The mitochondria have their own Hsps, for protein folding in the matrix, an important example of which is Hsp60. Given

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Liu, Tina Yu. "Mechanism of endoplasmic reticulum membrane fusion mediated by the Atlastin GTPase." Thesis, Harvard University, 2014. http://nrs.harvard.edu/urn-3:HUL.InstRepos:13064987.

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How organelles acquire their unique shapes is a fundamental question of cell biology. The peripheral endoplasmic reticulum (ER) consists of a vast network of membrane sheets and tubules, the formation of which requires homotypic membrane fusion. Previous studies suggest that the dynamin-like GTPase, atlastin (ATL), mediates ER fusion, but the mechanism by which this occurs is unclear. In this study, I investigate 1) the role of dimerization and conformational changes in the N-terminal domain of ATL, 2) how the C-terminal amphipathic helix and the transmembrane domain of ATL cooperate with the

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Jardin, Nicolas. "Rôle de la spastin dans le developpement des circuits moteurs et leur dégénérescence dans les paraplégies spastiques héréditaires." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066601/document.

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Les mutations du gène SPG4 codant la spastin sont responsables de la forme la plus fréquente de Paraplégies Spastiques Héréditaires (PSH), des maladies neurologiques caractérisées par une dégénérescence des faisceaux cortico-spinaux. La spastin, ainsi que son homologue p60-katanin sont des enzymes de cassure des microtubules (MSE) essentielles à la croissance des neurones moteurs spinaux (NMS) chez l'embryon de poisson-zèbre mais dont le rôle dans les processus de guidage axonal également dépendant des microtubules (MTs) demeurent énigmatiques. Les principaux objectifs de ma thèse ont consisté

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Wilmet, Baptiste. "Analyses des dysfonctions neuronales d’un modèle murin de Paraplégie Spastique Héréditaire." Thesis, Paris Sciences et Lettres (ComUE), 2019. http://www.theses.fr/2019PSLEP045.

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Les Paraplégies Spastiques Héréditaires sont un groupe de maladies du motoneurone caractérisées par une dégénérescence de l’axe corticospinal menant à la spasticité et une paralysie progressive des membres parfois associés à des troubles cognitifs. Des mutations dans le gène SPG11 codant pour la Spatacsine sont la majeure cause de ces formes complexes de HSP. Pour mieux comprendre les mécanismes responsables de la pathologie liée à SPG11, notre équipe a généré un modèle de souris Knock-out pour ce gène, mimant les déficits cognitifs et moteurs observés chez les patients, corrélés à des altérat

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Coutelier, Marie. "Remodelling the genetics of spinocerebellar entities. New genes, phenotypes, and transmission modes lead to new concepts." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066070.

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Les ataxies (HCA) et paraparésies spastiques héréditaires constituent les deux extrémités du spectre des entités neurodégénératives spinocérébelleuses (SCE). Elles sont marquées par une forte hétérogénéité clinique, avec des signes associés variés, et génétique. Elles peuvent se transmettre sur tous les modes d'hérédité, et des mutations ont été décrites dans une myriade de gènes. Les SCE sont donc une entité qui bénéficie particulièrement des avancées technologiques de la Nouvelle Génération de Séquençage. Ce travail décrit des résultats obtenus sur de grandes cohortes, par séquençage de pane

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Amorim, Simone Consuelo de. "Estudo da condução nervosa em pacientes com a síndrome SPOAN." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-05112013-154543/.

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Introdução: A síndrome SPOAN é uma doença neurodegenerativa, de transmissão genética autossômica recessiva, até o momento reconhecida apenas no Brasil, que caracteriza-se por: paraplegia espástica, de início nos primeiros anos de vida e caráter progressivo; atrofia óptica congênita; neuropatia periférica sensitivo-motora axonal, de início a partir da primeira década de vida; sobressaltos à estimulação sonora, disartria, deformidades de coluna e pés e sinais extra piramidais. A sua caracterização foi feita por nosso grupo, que avaliou clinicamente 71 indivíduos, originários do Rio Grande do Nor

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Depiets, Bérengère. "Etude physiopathologique de modèles murins de leucodystrophies dysmyélinisantes et approche thérapeutique." Thesis, Clermont-Ferrand 1, 2012. http://www.theses.fr/2012CLF1MM04/document.

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Les mutations du gène des protéolipoprotéines, PLP1, codant des protéines structurales majeures de la myéline du système nerveux central : PLP et DM20, sont responsables d'un sous-groupe de leucodystrophies dysmyélinisantes liées à l'X. La forme la plus sévère, la maladie de Pelizaeus-Merzbacher (PMD), induite principalement par des duplications du gène conduit à une hypomyélinisation majeure ; tandis que la forme la plus modérée, la paraplégie spastique de type 2 (SPG2), induite par des mutations non-sens ou des délétions du gène conduit à une myéline mal compactée et une dégénérescence axona

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Elbaghir, Omer Elsayed Liena. "Hereditary spastic paraplegias : clinical spectrum in Sudan, further deciphering of the molecular bases of autosomal recessive forms and new genes emerging." Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066056/document.

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Les paraplégies spastiques héréditaires (PSH) font partie d’un groupe plus large de pathologies neurodégénératives associant une spasticité. J’ai exploré la variabilité clinique et moléculaire de ces pathologies à l’aide d’une cohorte de familles soudanaises. Nous avons recruté 41 familles soudanaises [337 individus/106 atteints de PSH]. J’ai extrait l’ADN génomique et constitué une banque. Le criblage de gènes candidats a été réalisé dans 4 familles en fonction du phénotype des patients. La technologie de séquençage de nouvelle génération (SNG) appliquée à 74 gènes de PSH a ensuite été appliq

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Pantakani, Dasaradha Venkata Krishna. "Functional Characterization of Hereditary Spastic Paraplegia Proteins Spastin and ZFYVE27." Doctoral thesis, 2009. http://hdl.handle.net/11858/00-1735-0000-0006-B685-A.

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Pacheco, Mariana Teixeira Pinto Ferreira. "Spastic paraplegia with juvenile onset optic neuropathy|." Master's thesis, 2014. http://hdl.handle.net/10316/29249.

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Trabalho final de mestrado integrado em Medicina (Oftalmologia), apresentado à Faculdade de Medicina da Universidade de Coimbra<br>Hereditary Spastic Paraparesis (HSP) represents a group of genetically determined heterogeneous diseases. Mutations in the SPG7 (Paraplegin) gene, are responsible for a wide range of clinical presentations, varying from an autosomal recessive form of HSP to a form of ADON (Autossomal Dominant Optic Neuropathy), whose clinical characteristics are physiologically based on mitochondrial dysfunction. The impact of optic involvement clinically determined or reveale

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