Academic literature on the topic 'Ataxia - etiology'

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Journal articles on the topic "Ataxia - etiology"

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Wong, D., M. Dwinnel, M. Schulzer, M. Nimmo, B. R. Leavitt, and S. D. Spacey. "Ataxia and the Role of Antigliadin Antibodies." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 34, no. 2 (2007): 193–96. http://dx.doi.org/10.1017/s031716710000603x.

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Background:Although it is acknowledged that patients with celiac disease can develop neurological complications such as ataxia, the association of antigliadin antibodies in the etiology of sporadic ataxia and the usefulness of this testing in diagnosis of ataxia is controversial.Methods:We investigated this association by testing for the presence of IgG and IgA antigliadin antibodies in 56 ataxic patients and 59 controls. The ataxia patients were subsequently classified into three groups: sporadic, hereditary and MSA.Results:Of the total ataxic patients, 6/56 (11%) were positive for either IgG
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Pinto, Wladimir Bocca Vieira de Rezende, José Luiz Pedroso, Paulo Victor Sgobbi de Souza, Marcus Vinícius Cristino de Albuquerque, and Orlando Graziani Povoas Barsottini. "Non-progressive cerebellar ataxia and previous undetermined acute cerebellar injury: a mysterious clinical condition." Arquivos de Neuro-Psiquiatria 73, no. 10 (2015): 823–27. http://dx.doi.org/10.1590/0004-282x20150119.

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Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation. We evaluated patients with acquired non-progressive cerebellar ataxia that presented previous acute or subacute onset. Clinical and neuroimaging characterization of adult patients with acquired non-progressive ataxia were performed. Five patients were identified with the phenotype of acquired non-progressive ataxia. Most patients presented with a juvenile to adult-ons
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Salman, Michael S., Samantha F. Klassen, and Janine L. Johnston. "Recurrent Ataxia in Children and Adolescents." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 44, no. 4 (2017): 375–83. http://dx.doi.org/10.1017/cjn.2016.324.

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AbstractBackground: Recurrent ataxia is encountered infrequently in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by several disorders. Our aims were to describe the epidemiology and clinical features in children with recurrent ataxia. Materials and Methods: A retrospective review was undertaken in 185 children with chronic ataxia, who presented during 1991 to 2008. Several databases were searched to ensure optimum ascertainment. Patients with brain tumors or isolated disorders of the peripheral nerves or vestibular system were excluded. Results: R
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Cavone, Federica, Susanna Cappelli, Alice Bonuccelli, et al. "Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis." Journal of Clinical Medicine 12, no. 18 (2023): 6041. http://dx.doi.org/10.3390/jcm12186041.

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Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually becomes evident between 16 and 18 months of age, after the onset of walking, and is characterized by frequent falls and an ataxic gait with an enlarged base. We report the case of a child who first presented with serious recurrent infectious, without exhibiting neurological s
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Abyad, Abdulrazak. "Progressive Ataxia of Unknown Etiology." Middle East Journal of Internal Medicine 9, no. 1 (2016): 12–16. http://dx.doi.org/10.5742/meim.2015.92775.

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Abyad, Abdulrazak. "Progressive Ataxia of Unknown Etiology." Middle East Journal of Internal Medicine 10, no. 1 (2017): 32–37. http://dx.doi.org/10.5742/meim.2017.92928.

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Ghazal, Faten Abou, Swaraj Singh, Shadi Yaghi, and Salah G. Keyrouz. "Gluten Ataxia: An Important Treatable Etiology of Sporadic Ataxia." International Journal of Neuroscience 122, no. 9 (2012): 545–46. http://dx.doi.org/10.3109/00207454.2012.683220.

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Wallace, Stephanie E., and Thomas D. Bird. "Molecular genetic testing for hereditary ataxia." Neurology: Clinical Practice 8, no. 1 (2018): 27–32. http://dx.doi.org/10.1212/cpj.0000000000000421.

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Purpose of reviewBecause of extensive clinical overlap among many forms of hereditary ataxia, molecular genetic testing is often required to establish a diagnosis. Interrogation of multiple genes has become a popular diagnostic approach as the cost of sequence analysis has decreased and the number of genes associated with overlapping phenotypes has increased. We describe the benefits and limitations of molecular genetic tests commonly used to determine the etiology of hereditary ataxia.Recent findingsThere are more than 300 hereditary disorders associated with ataxia. The most common causes of
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Kaiser, Ryan Sohail, Arpita Khemka, Oishik Roy, Subhash Das, and Kalpana Datta. "An Unusual Etiology of Cerebellar Ataxia." Child Neurology Open 7 (January 1, 2020): 2329048X2090775. http://dx.doi.org/10.1177/2329048x20907754.

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Cerebellar ataxia, which is the lack of coordination, has a number of causes none of which are as uncommon or unheard of as Scrub typhus. Scrub typhus very rarely presents itself with CNS manifestations. Here, we present the case of a 7-year-old girl from the Hooghly district in West Bengal, who presented to us with the history of fever, cerebellar signs, and sudden onset of visual loss. She was ultimately diagnosed with scrub typhus cerebellitis.
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Zesiewicz, Theresa A., George Wilmot, Sheng-Han Kuo, et al. "Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia." Neurology 90, no. 10 (2018): 464–71. http://dx.doi.org/10.1212/wnl.0000000000005055.

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ObjectiveTo systematically review evidence regarding ataxia treatment.MethodsA comprehensive systematic review was performed according to American Academy of Neurology methodology.ConclusionsFor patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients w
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Dissertations / Theses on the topic "Ataxia - etiology"

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Rocha, Martina. "Ataxia de Friedreich: perspectivas de tratamento." Master's thesis, Universidade da Beira Interior, 2011. http://hdl.handle.net/10400.6/1023.

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A ataxia de Friedreich é uma doença autossómica recessiva descrita pela primeira vez por Nikolaus Friedreich em 1863 [1]. Afecta aproximadamente um em cada 50 000 caucasianos. Manifesta-se no início da segunda década de vida, habitualmente com a ataxia da marcha. As mãos são afectadas meses ou anos após o envolvimento das pernas, seguindo-se a afecção do discurso. Outras características relevantes são: fraqueza muscular, cifoescoliose, miocardiopatia e diabetes [2]. Esta doença é causada por uma mutação no cromossoma 9, que resulta numa hiperexpansão do tripleto GAA no primeiro intrão do gene
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"Proteomic analysis of polyglutamine disease in drosophila." 2005. http://library.cuhk.edu.hk/record=b5892385.

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Lam Wun.<br>Thesis (M.Phil.)--Chinese University of Hong Kong, 2005.<br>Includes bibliographical references (leaves 140-153).<br>Abstracts in English and Chinese.<br>ABSTRACT --- p.i<br>ACKNOWLDGEMENT --- p.iii<br>TABLE OF CONTENT --- p.iv<br>ABBREVIATIONS --- p.x<br>LISTS OF TABLES --- p.xi<br>LISTS OF FIGURES --- p.xii<br>Chapter 1. --- INTRODUCTION<br>Chapter 1.1 --- Neurodegeneration and triplet repeat diseases --- p.1<br>Chapter 1.2 --- Polyglutamine diseases --- p.2<br>Chapter 1.3 --- Polyglutamine nuclear inclusions --- p.4<br>Chapter 1.3.1 --- Kinetics of polyglutamine nuclear
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Books on the topic "Ataxia - etiology"

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Paul, Trouillas, and Fuxe Kjell, eds. Serotonin, the cerebellum, and ataxia. Raven Press, 1992.

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Andreas, Plaitakis, ed. Cerebellar degenerations: Clinical neurobiology. Kluwer Academic Publishers, 1992.

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Plaitakis, Andreas. Cerebellar Degenerations: Clinical Neurobiology. Springer London, Limited, 2012.

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Plaitakis, Andreas. Cerebellar Degenerations: Clinical Neurobiology. Springer, 2012.

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Kong, Melvin W., and Ejaz A. Shamim. Multiple System Atrophy. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0004.

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Multiple system atrophy is a group of diseases characterized by parkinsonism, ataxia, and dysautonomia. Although the etiology remains unclear, the molecular pathology has been somewhat clarified. The diagnosis is largely clinical but certain tests may help with confirming diagnosis. Treatment largely remains symptomatic.
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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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Book chapters on the topic "Ataxia - etiology"

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Tabassum, Rizwana, Anju Katyal, Chandrawati Kumari, and Mashoque Ahmad Rather. "Etiology of Ataxia: A Mechanistic Insight of Autoimmune, Toxicity, and Genetic Approach." In Mechanism and Genetic Susceptibility of Neurological Disorders. Springer Nature Singapore, 2024. http://dx.doi.org/10.1007/978-981-99-9404-5_5.

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Sivaram, C. "Etiology of Ataxia." In Principles of Exercises in Physiotherapy. Jaypee Brothers Medical Publishers (P) Ltd., 2009. http://dx.doi.org/10.5005/jp/books/10675_28.

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Klockgether, Thomas. "Sporadic adult-onset ataxia of unknown etiology." In Handbook of Clinical Neurology. Elsevier, 2012. http://dx.doi.org/10.1016/b978-0-444-51892-7.00015-2.

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Conference papers on the topic "Ataxia - etiology"

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Massuyama, Breno Kazuo, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini. "Ataxia unit of the Federal University of São Paulo: 16 years of experience and a description of frequency and etiology." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.662.

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Introduction: Cerebellar ataxias are a heterogeneous group of diseases comprising genetic and non-genetic etiologies. Sporadic ataxias are a group of neurological disorders with no family history for ataxia or its related symptoms and signs. Hereditary cerebellar ataxias and hereditary spastic paraplegias (HSP) are rare genetic neurodegenerative disorders with considerable clinical overlap. Objectives: To report a descriptive analysis of the frequency of different forms of cerebellar ataxias evaluated over 16 years in the Ataxia Unit, Federal University of São Paulo, Brazil. Methods: We review
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Gonçalves, Victoria Veiga Ribeiro, Isabela Fonseca Risso, Pedro Vinícius Brito Alves, et al. "Neurosyphilis causing stroke in young adult: a case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.127.

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Introduction: Up to 10% of strokes affect people under 45 years old. Syphilis is most common in adults. Fourteen percent of neurosyphilis cases have stroke its first manifestation. Objectives: To discuss neurosyphilis as an overlooked etiology for stroke. Design and setting: The case occurred in a public secondary care hospital located in São Paulo - Brazil. Methods: We present a case report of a 28-year-old woman brought to the emergency department due to acute ataxia. Previous history shows stroke at the age of 20 years old. Brain MRI showed ischemia in both cerebellar hemispheres, pons and
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Loureiro, Eduardo Sales, Luna Vasconcelos Felippe, Ana Luiza Cotta Mourão Guimarães, and Anna Carolina Dockhorn de Menezes Carvalho Costa. "HINTS protocole and it’s accuracy to identify posterior circulation stroke: a review." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.446.

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Introduction: The HINTS protocol is important to differentiate peripheral from central vertigo in Acute Vestibular Syndrome (AVS). There are studies that show almost 1/3 of patients have posterior circulation stroke. It is important to investigate why this happens. Objectives: Review the accuracy of HINTS test in the diagnosis of posterior circulation stroke. Methods: Review conducted in PubMed using key words “HINTS AND ACCURACY AND STROKE”. The search found 9 articles, 7 of which were included. Results: Tehrani et al. (2014) studied HINTS’s accuracy when associated with hearing loss, resulti
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Silva Júnior, Mário Luciano de Mélo, Roberta Lorena de Farias Souza, Marcos Vinícius de Souza Vilanova, and Marcos Holmes Carvalho. "Subacute combined degeneration of spinal cord vs Miller-Fisher syndrome: a diagnostic challenge." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.635.

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Context: Ataxic syndromes in the emergency department have a vast differential diagnosis, including immune, nutritional, and other etiologies. Case report: Man, 67yo, alcoholic, but previously healthy, came to ED due to complaints of falls and progressive dysesthesia in lower limbs which started 7 days from admission. He denied other toxic exposures or infectious history, except covid-19 one month before the current symptoms. Physical examination revealed mild hoarseness, left hemipalate paresis, tactile and position sense hypoesthesia, no sensory level, absence of profound reflexes; right hyp
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Hussein, Mohamad Ali, Bruna Pereira Correia, Leonardo Valente de Camargo, Vinicius Aldo Cury, Juliana Passos, and Gustavo Mafei Fores. "Miller Fisher syndrome after hiv infection ( case report and literature review )." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.691.

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Context: Guillain-Barré syndrome is a polyradiculoneuropathy of heterogeneous manifestations, necessarily presenting progressive appendicular weakness of variable intensity associated with reduction or abolition of deep reflexes. One of its variants is known as Miller Fisher Syndrome (MFS), characterized by ophthalmoparesis, ataxy and areflexia. It usually has, by etiology, immunomediated reactions induced by acute infections, including HIV. Objectives: This report aims to describe a case of MFS with concomitants HIV infection, attended in a tertiary hospital in northern Paraná and compared it
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Souza, Thierry Kaue Alves Silva, Nara Maria Borges Alves, Fabiana Moraes, et al. "Cortical and subcortical atrophy in individuals with Huntington's disease and Huntington-like disease." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.551.

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Background: Huntington-like (HL) syndrome represents a group of diseases clinically similar to Huntington disease (HD) with different genetic etiology. Here, we aimed to compare clinical and neuroimaging features between HL and HD. Methods: We assessed 12 patients with HL (6 men; 53.66±13.02 years old) and 12 with HD (genetically confirmed, 6 men; 52.58±11.64 years old). All patients were followed at UNICAMP and were matched to sex, age, age at onset and duration of disease. They underwent 3T MRI scans, detailed neurological examination, the unified Huntington’s disease rating scale (UHDRS), t
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Barbosa, Adriel Rêgo, Ruan Gambardella, Rafael Maffei, et al. "Case report: baló concentric sclerosis in a patient presenting with dyslexia, dysgraphia, and agraphesthesia." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.739.

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Introduction: Baló Concentric Sclerosis (BCS) is a rare inflammatory demyelinating disease of the central nervous system. Commonly reported symptoms and its classic neuroimaging findings can lead to a mistaken diagnosis of expanding lesions. The aim is to report on a case of a rare etiology of altered parietal lobe cortical functions, and the importance of topographic reasoning. Review of the patient’s file for clinical history, neurological exam, and complementary tests was performed. Case report: A 36-year-old male patient presented to the emergency room (ER) with complaints of sudden diffic
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Arruda, Natálya Estefanny Nóbrega De Souza, Eduarda Arduim Maia Porto, Kalyne Rayane De Paula Lins, Simone Arndt Kelm, and Vivianne Gomes Pereira. "A ESCLEROSE MÚLTIPLA: UMA ABORDAGEM CLÍNICA E PATOLÓGICA." In I Congresso Brasileiro de Imunologia On-line. Revista Multidisciplinar em Saúde, 2021. http://dx.doi.org/10.51161/rems/999.

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INTRODUÇÃO: A Esclerose Múltipla (EM) é uma doença autoimune, progressiva, desmielinizante, inflamatória crônica que afeta o Sistema Nervoso Central (SNC), levando a defeitos na condução da sinapse e causando graus variáveis de incapacidade física e cognitiva. Tende a acometer adultos jovens, em sua maioria mulheres. OBJETIVOS: O presente trabalho visa conceituar a EM, bem como, apresentar suas características epidemiológicas, clínicas, patológicas e sua sintomatologia. MÉTODOS: Realizou-se uma revisão bibliográfica na Biblioteca Virtual em Saúde (BVS) sobre o tema, nas bases de dados MEDLINE
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