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Relevant bibliographies by topics / Spastic paraplegia

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Academic literature on the topic 'Spastic paraplegia'

Author: Grafiati

Published: 4 June 2021

Last updated: 26 July 2025

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Journal articles on the topic "Spastic paraplegia"

1

Mohan, Neha, Liang Qiang, Gerardo Morfini, and Peter W. Baas. "Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia." Brain Sciences 11, no. 8 (2021): 1081. http://dx.doi.org/10.3390/brainsci11081081.

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Mutations of the SPAST gene that encodes the microtubule-severing enzyme called spastin are the chief cause of Hereditary Spastic Paraplegia. Growing evidence indicates that pathogenic mutations functionally compromise the spastin protein and endow it with toxic gain-of-function properties. With each of these two factors potentially relevant to disease etiology, the present article discusses possible therapeutic strategies that may ameliorate symptoms in patients suffering from SPAST-based Hereditary Spastic Paraplegia, which is usually termed SPG4-HSP.

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Hadzsiev, Kinga, László Balikó, Katalin Komlósi, et al. "Genetic testing of hereditary spastic paraplegia." Orvosi Hetilap 156, no. 3 (2015): 113–17. http://dx.doi.org/10.1556/oh.2015.30014.

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Introduction: Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15–40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally. Aim: The molecular testing of spastin gene is availab

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Olmez, Akgun, and Haluk Topaloglu. "HEREDITARY SPASTIC PARAPLEGIA: PATHOGENESIS AND PATHOPHYSIOLOGY." National Journal of Neurology 1, no. 05 (2014): 10–22. http://dx.doi.org/10.61788/njn.v1i14.01.

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- Hereditary spastic paraplegias constitute a larger group of disorders than expected. - Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 mutations. Genetic testing is suggested mainly for these genes. - The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. - How different genes with many different biological functions, including axonal transport, mitochondrial funct

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Olmez, Akgun, and Haluk Topaloglu. "Hereditary spastic paraplegia:Pathogenesis and pathophysiology." NATIONAL JOURNAL OF NEUROLOGY, no. 5 (December 4, 2018): 1–13. http://dx.doi.org/10.28942/nnj.v1i5.105.

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 Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients.  How different genes with many different biological functions, including axonal transport, mitoch

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Lin, Xiang, Hui-Zhen Su, En-Lin Dong, et al. "Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia." Brain 142, no. 8 (2019): 2238–52. http://dx.doi.org/10.1093/brain/awz158.

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Abstract Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of the corticospinal tract. Clinical characterization of patients with hereditary spastic paraplegias represents progressive spasticity, exaggerated reflexes and muscular weakness. Here, to expand on the increasingly broad pools of previously unknown hereditary spastic paraplegia causative genes and subtypes, we performed whole exome sequencing for six affected and two unaffected individuals from two unrelated Chinese families with an autosomal dominant hereditary s

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Zhalsanova, Irina Zh, Elizaveta A. Fonova, Nail R. Valiakhmetov, et al. "Case Report: a novel splice variant of SPAST gene in autosomal dominant spastic paraplegia, type 4." Vestnik Tomskogo gosudarstvennogo universiteta. Biologiya, no. 69 (2025): 83–92. https://doi.org/10.17223/19988591/69/10.

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Hereditary spastic paraplegia is a clinically and genetically heterogeneous group of rare neurodegenerative diseases that is characterized by slowly progressive spasticity and weakness in the lower limbs. The prevalence of the disease reaches 1-5 cases per 100,000 populations. Clinically, the disease is divided into pure and complicated spastic paraplegia. Pure spastic paraplegia is mainly characterized by slowly progressive weakness and spasticity of the lower limbs. Complicated spastic paraplegia includes leg spasticity, optic neuropathy, retinopathy, extrapyramidal dysfunction, dementia, at

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Tadepalle, Nimesha, Lennart Robers, Matteo Veronese, et al. "Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis." Life Science Alliance 3, no. 6 (2020): e202000715. http://dx.doi.org/10.26508/lsa.202000715.

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Lipid droplets (LDs) are metabolic organelles that store neutral lipids and dynamically respond to changes in energy availability by accumulating or mobilizing triacylglycerols (TAGs). How the plastic behavior of LDs is regulated is poorly understood. Hereditary spastic paraplegia is a central motor axonopathy predominantly caused by mutations in SPAST, encoding the microtubule-severing protein spastin. The spastin-M1 isoform localizes to nascent LDs in mammalian cells; however, the mechanistic significance of this targeting is not fully explained. Here, we show that tightly controlled levels

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Komachali, Sajad Rafiee, Zakieh Siahpoosh, and Mansoor Salehi. "Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran." Genomics & Informatics 20, no. 3 (2022): e30. http://dx.doi.org/10.5808/gi.22030.

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Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate MR, short stature, balance problem, and lower limb we

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Shin, Sanghoon, Jinyoung Park, Juntaek Hong, and Jung Hyun Park. "Improved gait speed in spastic paraplegia: a new modality." BMJ Supportive & Palliative Care 10, no. 4 (2019): e41-e41. http://dx.doi.org/10.1136/bmjspcare-2018-001738.

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ObjectivesThe gait disturbance in spastic paraplegic patients lowers the gait speed, increases fall risk and eventually lower the quality of life. This study aims to investigate the effect of electrical twitch obtaining intramuscular stimulation (ETOIMS) on spastic paraplegic patients’ gait speed and pattern.MethodsA prospective short-term cohort study was designed in the outpatient clinic of the department of rehabilitation in a tertiary hospital. Patients with spastic paraplegia (N=5) were participated, including spinal cord tumour (N=2), cervical myelitis (N=1), hereditary spastic paraplegi

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Nagai, Takahiro, Yoko Sunami, Risa Kato, et al. "Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report." Case Reports in Neurology 13, no. 1 (2021): 84–91. http://dx.doi.org/10.1159/000512404.

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Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by the mutations in the <i>SPAST</i> gene, which encodes a microtubule-severing protein named spastin. Spastin regulates the number and mobility of microtubules and is essential for axonal outgrowth and neuronal morphogenesis. Herein, we report a patient with SPG4 harboring a novel donor splice site mutation in the <i>SPAST</i> gene (c.1616+1dupG). Although SPG4 usually manifests itself as a pure form of HSP, this patient exhibited a slow progressive cognitive decline

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Dissertations / Theses on the topic "Spastic paraplegia"

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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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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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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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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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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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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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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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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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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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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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Books on the topic "Spastic paraplegia"

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Alleyne, Cargill Herley. Clinical and seroepidemiological case-control study of tropical spastic paraparesis and multiple sclerosis in Barbados. s.n.], 1991.

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Alexis, Brice, and Pulst Stefan-M, eds. Spinocerebellar degenerations: The ataxias and spastic paraplegias. Butterworth-Heinemann/Elsevier, 2007.

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Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be

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Tansey, Donall. Hereditary spastic paraplegia: Linkage analysis of chromosome 15 in a family with autosomal dominant disease. 1997.

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Paganoni, Sabrina, and Nazem Atassi. Upper Motor Neuron Disorders Hereditary Spastic Paraplegia and Primary Lateral Sclerosis. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0032.

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Upper motor neuron (UMN) syndromes are a group of rare, degenerative neurological disorders that are classified as either hereditary spastic paraplegia (HSP) or primary lateral sclerosis (PLS). Our understanding of their underlying pathophysiology is unfortunately very limited and has been a significant barrier to the development of disease-modifying treatments. Recent advances in genetics and in vitro and in vivo disease modeling have provided new insights into disease mechanisms and hold the promise to lead to the future development of mechanism-based therapies.

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Publications, ICON Health. The Official Patient's Sourcebook on Hereditary Spastic Paraplegia: A Revised and Updated Directory for the Internet Age. Icon Health Publications, 2002.

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Shaibani, Aziz. Hyperreflexia. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0018.

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Hyperactive deep tendon reflexes (DTRs) is a sign of upper motor neuron (UMN) lesions. It is also commonly seen in normal but anxious people. The proper technique of deep tendon reflex examination and experience play a major role in eliciting and categorizing DTRs. Sustained clonus is the highest degree of hyperreflexia. The most important neuromuscular disease associated with hyperreflexia is amyotrophic lateral sclerosis (ALS) due to degeneration of the cortical motor neurons. Diagnostic difficulty occurs when hyperreflexia and spasticity are the only findings. In these cases, primary latera

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Shaibani, Aziz. Muscle Stiffness and Cramps. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190661304.003.0020.

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Muscle stiffness as a nonspecific term means limited muscle mobility. Muscle and joint pain may be described as stiffness. Painful, sustained muscle cramps are usually associated with muscle stiffness. A careful history is paramount. Exercise-induced muscle cramps are usually myopathic (metabolic or mitochondrial myopathy) while resting, and nocturnal cramps are neurogenic [neuropathy, motor neuron disease (MND), etc.]. Metabolic cramps are electrically silent. Focal or generalized stiffness is typically seen in stiff person syndrome (SPS). Upper motor neuron (UMN) lesions are associated with

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Formation, Health. Journal and Tracker : Healing Spastic Paraplegia Optic Atrophy and Neuropathy: The 30 Day Raw Vegan Plant-Based Detoxification and Regeneration Journal and Tracker for Reversing Conditions. Journal 2. Independently Published, 2020.

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Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias. Elsevier, 2007. http://dx.doi.org/10.1016/s1877-184x(09)x7004-8.

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Book chapters on the topic "Spastic paraplegia"

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Liberski, Pawel P., and Craig Blackstone. "Hereditary Spastic Paraplegia." In Neurodegeneration. John Wiley & Sons, Ltd, 2017. http://dx.doi.org/10.1002/9781118661895.ch15.

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Rodríguez-Leyva, Ildefonso. "Hereditary Spastic Paraplegia." In International Neurology. Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444317008.ch54.

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Rodríguez-Leyva, Ildefonso. "Hereditary spastic paraplegia." In International Neurology. John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118777329.ch107.

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Chen, Harold. "Hereditary Spastic Paraplegia." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_272-1.

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Schindler, Alice B. "Hereditary Spastic Paraplegia." In Genetic Counseling for Adult Neurogenetic Disease. Springer US, 2014. http://dx.doi.org/10.1007/978-1-4899-7482-2_15.

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Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, et al. "Spastic Paraplegia, Hereditary." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1645.

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Desnick, Robert J., Orlando Guntinas-Lichius, George W. Padberg, et al. "Familial Spastic Paraplegia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6841.

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Leung, Alexander K. C., Cham Pion Kao, Andrew L. Wong, et al. "Spinal Spastic Paraplegia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6843.

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, et al. "Hereditary Spastic Paraplegia." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_9222.

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Chen, Harold. "Hereditary Spastic Paraplegia." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_272.

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Conference papers on the topic "Spastic paraplegia"

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Guanais, Luan, Patrícia Pontes Cruz, Aline Rocha Anibal, and Emília Katiane Embiruçu. "Early-onset hereditary spastic paraplegia: case report." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774578.

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Perini, Laís Bissoli, Fernando Zanette, Katia Lin, Pricila Bernardi, Gisele Espíndola, and André Dias de Oliveira. "Mutation in the REEP1 gene related to SPG31 (Autosomal Dominant Hereditary Spastic Paraplegia type 31)." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.760.

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Introduction: The REEP1 gene is associated with a spectrum of overlapping autosomal dominant conditions including hereditary spastic paraplegia 31 (SPG31), distal hereditary motor neuropathy 5B. It’s a neurologic condition limited to progressive lower extremity spastic weakness and associated atrophy, distally predominant, hypertonic urinary bladder, and mild lower extremit vibratory sensation loss. SPG31 has an estimated prevalence of one to 12 per 100.000 individuals. Objectives: To report a rare case of mutation in the REEP1 gene related to SPG31. Case presentation: A 38-year-old woman, bor

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Raza, Rushna, and Raj Lodh. "GP116 Approach to managing spasticity in hereditary spastic paraplegia." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.181.

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Braga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, et al. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.

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Context: Hereditary spastic paraplegias (HSPs) represent an expanding group of neurodegenerative diseases characterized mainly by progressive spastic paraparesis of the lower limbs. More than 80 different genetic loci have been associated with HSPs. In 2015, heterozygous pathogenic variants in the CPT1C gene were first associated with SPG73, not yet described in Brazilian patients. Objective: We present clinical, neuroimaging and genetic features of three Brazilian patients with SPG73. Cases reports: We report one male and two female patients, age range 36 to 78 years old. Case 1 presented wit

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Kutty, Jayasree. "GP47 A novel mutation in autosomal dominant spastic paraplegia type 4." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.113.

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Martindale, Christine F., Martin Strauss, Heiko Gassner, et al. "Segmentation of gait sequences using inertial sensor data in hereditary spastic paraplegia." In 2017 39th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2017. http://dx.doi.org/10.1109/embc.2017.8037062.

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Martindale, Christine F., Nils Roth, Heiko Gasner, Dennis Jensen, Zacharias Kohl, and Bjoern M. Eskofier. "Mobile Gait Analysis using Personalised Hidden Markov Models for Hereditary Spastic Paraplegia Patients." In 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC). IEEE, 2018. http://dx.doi.org/10.1109/embc.2018.8513508.

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Coccia, Armando, Federica Amitrano, Pietro Balbi, Leandro Donisi, Arcangelo Biancardi, and Giovanni D'Addio. "Analysis of Test-Retest Repeatability of Gait Analysis Parameters in Hereditary Spastic Paraplegia." In 2021 IEEE International Symposium on Medical Measurements and Applications (MeMeA). IEEE, 2021. http://dx.doi.org/10.1109/memea52024.2021.9478743.

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Ollesch, Bridget, Nicholas Frost, and Jumana Alshaikh. "A Novel Presenilin-1 Mutation Associated with Dementia and Spastic Paraplegia (P5-6.004)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000203943.

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Saffari, Afshin, Catherine Jordan, Alisa Mo, et al. "The Clinical And Molecular Spectrum Of ZFYVE26-Associated Hereditary Spastic Paraplegia (SPG15) (P13-11.005)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000201952.

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