Relevant bibliographies by topics / Cerebellar ataxias

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Cerebellar ataxias'

Author: Grafiati
Published: 3 June 2025
Last updated: 31 July 2025

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Journal articles on the topic "Cerebellar ataxias"

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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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Massuyama, Breno Kazuo, Maria Thereza Drumond Gama, Thiago Yoshinaga Tonholo Silva, Pedro Braga-Neto, José Luiz Pedroso, and Orlando Graziani Povoas Barsottini. "Ataxias in Brazil: 17 years of experience in an ataxia center." Arquivos de Neuro-Psiquiatria 82, no. 08 (2024): 1–8. http://dx.doi.org/10.1055/s-0044-1787800.

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Abstract Background Cerebellar ataxias comprise sporadic and genetic etiologies. Ataxia may also be a presenting feature in hereditary spastic paraplegias (HSPs). Objective To report a descriptive analysis of the frequency of different forms of cerebellar ataxia evaluated over 17 years in the Ataxia Unit of Universidade Federal de São Paulo, Brazil. Methods Charts of patients who were being followed from January 2007 to December 2023 were reviewed. We used descriptive statistics to present our results as frequencies and percentages of the overall analysis. Diagnosed patients were classified ac
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Hadjivassiliou, Marios, Mario Manto, and Hiroshi Mitoma. "Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges." Brain Sciences 12, no. 9 (2022): 1165. http://dx.doi.org/10.3390/brainsci12091165.

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The cerebellum is particularly enriched in antigens and represents a vulnerable target to immune attacks. Immune-mediated cerebellar ataxias (IMCAs) have diverse etiologies, such as gluten ataxia (GA), post-infectious cerebellitis (PIC), Miller Fisher syndrome (MFS), paraneoplastic cerebellar degeneration (PCD), opsoclonus myoclonus syndrome (OMS), and anti-GAD ataxia. Apart from these well-established entities, cerebellar ataxia (CA) occurs also in association with autoimmunity against ion channels and related proteins, synaptic adhesion/organizing proteins, transmitter receptors, glial cells
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Zawadzki, Dariusz, Mariusz Ciastkowski, and Agnieszka Ciastkowska-Berlikowska. "Ataxia in children in the practice of a paramedic." Emergency Medical Service 10, no. 2 (2023): 124–27. http://dx.doi.org/10.36740/emems202302108.

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The term ataxia includes impaired coordination and balance, and a lack of muscle control over intended movements. The most common signs and symptoms of cerebellar ataxia are ataxic gait (shaky, broad-based), movement disorders resulting from lack of proper muscular coordination, dysmetria, movement decomposition, intention tremor, and dysdiadachokinesia (disorder of alternating movements). Clinical symptoms vary depending on the damaged element: cerebellar hemisphere, cerebellar vermis, damage to the deep sensory pathways or damage to the cerebellar-frontal tracts and frontal centers. The most
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Di Nuzzo, Chiara, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori, and Roberta Ferrucci. "Non-invasive Cerebellar Stimulation in Cerebellar Disorders." CNS & Neurological Disorders - Drug Targets 17, no. 3 (2018): 193–98. http://dx.doi.org/10.2174/1871527317666180404113444.

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Background & Objective: Non-invasive brain stimulation (NIBS) might be a valuable therapeutic approach for neurological diseases by modifying the cortical activity in the human brain and promoting neural plasticity. Currently, researchers are exploring the use of NIBS on the cerebellum to promote functional neural changes in cerebellar disorders. Conclusion: In the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments
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Lopriore, Piervito, Marco Vista, Alessandra Tessa, et al. "Primary Coenzyme Q10 Deficiency-Related Ataxias." Journal of Clinical Medicine 13, no. 8 (2024): 2391. http://dx.doi.org/10.3390/jcm13082391.

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Cerebellar ataxia is a neurological syndrome characterized by the imbalance (e.g., truncal ataxia, gait ataxia) and incoordination of limbs while executing a task (dysmetria), caused by the dysfunction of the cerebellum or its connections. It is frequently associated with other signs of cerebellar dysfunction, including abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia. Among the so-termed mitochondrial ataxias, variants in genes encoding steps of the coenzyme Q10 biosynthetic pathway represent a common cause of autosomal recessive primary coenzyme Q10 deficiencie
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Tamaš, Olivera, Gorica Marić, Milutin Kostić, et al. "The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias." Brain Sciences 14, no. 1 (2023): 1. http://dx.doi.org/10.3390/brainsci14010001.

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In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients’ health related to quality of life (HRQoL). The aim of this study was to evaluate the various aspects of HRQoL and predictors of QoL in patients with neurodegenerative cerebellar ataxias. We included a total of 107 patients with cerebellar degenerative ataxia. Patients filled out the validated Serbian version of the SF-36 used for the assessment of HRQoL. All patients were clinically evaluated using SARA, INAS, and neuropsychological tests to assess their global cognit
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Benussi, Alberto, Alvaro Pascual-Leone, and Barbara Borroni. "Non-Invasive Cerebellar Stimulation in Neurodegenerative Ataxia: A Literature Review." International Journal of Molecular Sciences 21, no. 6 (2020): 1948. http://dx.doi.org/10.3390/ijms21061948.

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Cerebellar ataxias are a heterogenous group of degenerative disorders for which we currently lack effective and disease-modifying interventions. The field of non-invasive brain stimulation has made much progress in the development of specific stimulation protocols to modulate cerebellar excitability and try to restore the physiological activity of the cerebellum in patients with ataxia. In light of limited evidence-based pharmacologic and non-pharmacologic treatment options for patients with ataxia, several different non-invasive brain stimulation protocols have emerged, particularly employing
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Manto, Mario, and Hiroshi Mitoma. "Recent Advances in Immune-Mediated Cerebellar Ataxias: Pathogenesis, Diagnostic Approaches, Therapies, and Future Challenges—Editorial." Brain Sciences 13, no. 12 (2023): 1626. http://dx.doi.org/10.3390/brainsci13121626.

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The clinical category of immune-mediated cerebellar ataxias (IMCAs) has been established after 3 decades of clinical and experimental research. The cerebellum is particularly enriched in antigens (ion channels and related proteins, synaptic adhesion/organizing proteins, transmitter receptors, glial cells) and is vulnerable to immune attacks. IMCAs include various disorders, including gluten ataxia (GA), post-infectious cerebellitis (PIC), Miller Fisher syndrome (MFS), paraneoplastic cerebellar degeneration (PCD), opsoclonus myoclonus syndrome (OMS), and anti-GAD ataxia. Other disorders such as
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Braga Neto, Pedro, José Luiz Pedroso, Sheng-Han Kuo, C. França Marcondes Junior, Hélio Afonso Ghizoni Teive, and Orlando Graziani Povoas Barsottini. "Current concepts in the treatment of hereditary ataxias." Arquivos de Neuro-Psiquiatria 74, no. 3 (2016): 244–52. http://dx.doi.org/10.1590/0004-282x20160038.

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ABSTRACT Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitocho
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Dissertations / Theses on the topic "Cerebellar ataxias"

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Beaudin, Marie. "The nosology of hereditary cerebellar ataxias : development of a classification for recessive ataxias and phenotypical description of Spinocerebellar ataxia 34." Master's thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/36557.

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Les ataxies cérébelleuses héréditaires causent une atteinte progressive de l’équilibre et de la marche. Malgré l’amélioration de la performance et de l’accessibilité des tests génétiques, environ la moitié des patients demeurent sans diagnostic précis, ce qui a un impact sur la prise en charge. Dans ce mémoire de maîtrise, nous abordons l’enjeu du sous-diagnostic chez les patients atteints d’ataxie cérébelleuse via l’élaboration d’une nouvelle classification pour les ataxies récessives et la caractérisation détaillée de l’ataxie spinocérébelleuse 34. Le premier chapitre est une revue systémati
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Wang, Xiaowei. "Therapeutic potential of modulators of cannabinoid receptors in cerebellar ataxias." Thesis, University of Reading, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.553006.

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Cerebellar ataxias (CAs) are a group of motor disorders associated with Purkinje cell (PC) degeneration for which no effective therapeutic treatment exists. Many studies have suggested that modulation of the body's endocannabinoid system may be of use in treatment of diseases involving changes to neuronal excitability. For example, hyperexcitability has been proposed as a mechanism underlying PC degeneration in CAs. In this thesis, electrophysiological, and also biochemical approaches have been used to investigate cannabinoid CBl receptor-mediated signalling in the cerebellum. This work was ex
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Perkins, Jon Davis. "Swayed by sound : sonic guidance as a neurorehabilitation strategy in the cerebellar ataxias." Thesis, University of Edinburgh, 2014. http://hdl.handle.net/1842/30642.

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Smith, Eric D. S. M. Massachusetts Institute of Technology. "Robotic compensation of cerebellar ataxia." Thesis, Massachusetts Institute of Technology, 2007. http://hdl.handle.net/1721.1/42311.

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Thesis (S.M.)--Massachusetts Institute of Technology, Dept. of Mechanical Engineering; and, (S.M.)--Massachusetts Institute of Technology, Dept. of Electrical Engineering and Computer Science, 2007.<br>Includes bibliographical references (p. 115-117).<br>The cerebellum is believed to play a role in dynamic compensation in the human motor control system. When it is damaged, subjects make clumsy movements with reduced acceleration, increased overshoot, and swerving in multi-joint movements. These errors, which are referred to clinically as ataxia, are consistent with failing to compensate for th
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Balastik, Martin. "Trim2 mutant mice as a model for cerebellar ataxia." Doctoral thesis, [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=975117025.

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Shanmugarajah, P. D. "An investigation into the role of autoimmunity in cerebellar ataxia." Thesis, University of Sheffield, 2015. http://etheses.whiterose.ac.uk/9605/.

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Hourez, Raphaël. "Dysfonction des cellules de Purkinje du cervelet dans l'ataxie spino-cérébelleuse de type 1 (SCA1), le syndrome alcoolique foetal et lors de la modulation d'expression de Nogo-A." Doctoral thesis, Universite Libre de Bruxelles, 2007. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210583.

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Pan, Ying-Hui Annie. "An Investigation into the Molecular Genetics and Pathology of Cerebellar Abiotrophy in Australian Working Kelpie Dogs." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17903.

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Australian working Kelpie dogs are affected with an autosomal recessive form of cerebellar ataxia (cerebellar abiotrophy, CA) that is characterised by a degeneration of neurons in the cerebellar cortex. The clinical signs of CA include cerebellar ataxia and head tremor etc., with a clinical onset of 4 to 16 weeks old (early-onset), however a later age of onset for some dogs (later-onset) is reported in this study. Degeneration of Purkinje cells and granule cells, and activation of astrocytes were present throughout the cerebellum of all early-onset and later-onset CA affected working Kelpie do
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Chintawar, Satyan. "Neural precursor cells: interaction with blood-brain barrier and neuroprotective effect in an animal model of cerebellar degeneration." Doctoral thesis, Universite Libre de Bruxelles, 2009. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210202.

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Adult neural precursor cells (NPCs) are a heterogeneous population of mitotically active, self-renewing multipotent cells of both adult and developing CNS. They can be expanded in vitro in the presence of mitogens. The B05 transgenic SCA1 mice, expressing human ataxin-1 with an expanded polyglutamine tract in cerebellar Purkinje cells (PCs), recapitulate many pathological and behavioral characteristics of the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1), including progressive ataxia and PC loss. We transplanted neural precursor cells (NPCs) derived from the subventricular zon
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Heusel-Gillig, Lisa, and Courtney D. Hall. "Effectiveness of Physical Therapy Intervention in Patients with Degenerative Cerebellar Ataxia." Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/571.

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Books on the topic "Cerebellar ataxias"

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Soong, Bing-wen, Mario Manto, Alexis Brice, and Stefan M. Pulst, eds. Trials for Cerebellar Ataxias. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-24345-5.

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Triarhou, Lazaros C. Neural Transplantation in Cerebellar Ataxia. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-662-22213-3.

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

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

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National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, ed. Machado-Joseph disease. U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, 2001.

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1921-, Sobue Itsuro, ed. TRH and spinocerebellar degeneration. Elsevier, 1986.

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Storey, Elsdon. Ataxias. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0007.

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This chapter explores the historical development of understanding about the structure, function, and disorders of the cerebellum. The chosen papers represent the following development: the discovery that the cerebellum is concerned with movement control rather than movement generation; the first recognition of a distinct spinocerebellar disorder; recognition of the existence of dominantly-inherited ataxias; the delineation of the classic motor features of ataxia; the formal recognition of paraneoplastic cerebellar degenerations; the description of truncal ataxia due to anterior vermal damage i
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Shakkottai, Vikram G. Ataxias. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0014.

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Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ata
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Fletcher, Nicholas. Tremor, ataxia, and cerebellar disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0898.

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Tremors are characterized by rhythmic oscillations of one or more body parts. Although typically seen in the upper limbs, almost any area may be involved, including the trunk, head, facial muscles, and legs. Sometimes, tremor is not visible at all but may be heard or palpated, for example, in vocal or orthostatic tremor, respectively. In neurological practice, the diagnosis and treatment of tremor is an everyday problem. A common scenario is the distinction between essential tremor and Parkinson’s disease. In this chapter, the wide range of tremors are discussed, with their aetiolology, pathop
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Soong, Bing-wen. Trials for Cerebellar Ataxias: From Cellular Models to Human Therapies. Springer International Publishing AG, 2023.

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Book chapters on the topic "Cerebellar ataxias"

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Hadjivassiliou, Marios, and Hiroshi Mitoma. "Immune-Mediated Cerebellar Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-15070-8_87.

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Beaudin, Marie, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_73.

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Finsterer, Josef. "X-Linked Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-24551-5_74.

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Beaudin, Marie, Ikhlass Haj Salem, and Nicolas Dupré. "Autosomal Recessive Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-15070-8_83.

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Finsterer, Josef. "X-Linked Ataxias." In Essentials of Cerebellum and Cerebellar Disorders. Springer International Publishing, 2023. http://dx.doi.org/10.1007/978-3-031-15070-8_84.

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Taroni, Franco, Luisa Chiapparini, and Caterina Mariotti. "Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_101.

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Taroni, Franco, Luisa Chiapparini, and Caterina Mariotti. "Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-23810-0_101.

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Noreau, Anne, Nicolas Dupré, Jean-Pierre Bouchard, Patrick A. Dion, and Guy A. Rouleau. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-1333-8_100.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-97911-3_100-2.

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Haj Salem, Ikhlass, Anne Noreau, Jean-Pierre Bouchard, Patrick A. Dion, Guy A. Rouleau, and Nicolas Dupré. "Autosomal Recessive Cerebellar Ataxias." In Handbook of the Cerebellum and Cerebellar Disorders. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-23810-0_100.

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Conference papers on the topic "Cerebellar ataxias"

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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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Rocha Filho, Juliano Henrique, Beatriz Brasil Braga, Kristine Leão Alarcão, and Maria Teresa Aires Cabral Dias. "Clinical Findings of Type 3 Spinocerebellar Ataxia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.198.

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Background: Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of progressive autosomal disorders of dominant inheritance with a gradual degeneration of the cerebellum and related pathways [1]. This leads to a movement disorder, loss of balance and coordination, accompanied by slurred speech [2]. Among the approximately 40 types of SCA, the spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most clinically heterogeneous [3]. It involves the cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems [2]. Objectives: Understand th
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Silva, Diógenes Emanuel Dantas da, Roberta Lessa Ribeiro, Iony Santana Santos Dantas, et al. "Atypical presentation of progressive multifocal leukoencephalopathy in a patient with ataxic syndrome and retrovirus with infra-tentorial involvement: a case report." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.615.

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Introduction: Progressive Multifocal Leukoencephalopathy (PML) is a rare demyelinating disease of the central nervous system caused by reactivation of the JC virus. It usually occurs in immunocompromised patients. The majority of PML cases present with supratentorial involvement. In contrast, infratentorial involvement is exceedingly rare in PML. The aim to report an atypical presentation of PML in a patient with ataxic syndrome and retrovirus with infra-tentorial involvement. This is a case report study. The information of this work was obtained through review of the medical record. Case repo
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Silvério, Gabriel André, Renata Cristine Alves, Pedro Arthur Possan, et al. "Acute pregabalin cerebellar ataxia." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.515.

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Female patient, 65-year-old, complaining of imbalance and difficulty walking for 15 days, associated with dizziness and diplopia, with worsening symptoms in the last four days. In recent use of pregabalin 75 mg daily to treat chronic pain, with dose increase in the last four days. On examination, he presented ataxic gait, drunken speech, pendular reflex, dysmetria and dysdiadochokinesia. We opted for the suspension of Pregabalin and complementary investigation for cerebellar ataxia with imaging examination, examination of the cerebrospinal fluid (CSF) and laboratory tests. Magnetic resonance i
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Massruha, Karina Silveira, Alexandre Coelho Marques, João Henrique Ferreira, Christian Henrique de Andrade Freitas, and Livia Almeida Dutra. "A 15-year-old boy with sudden short-memory impairment and ataxia." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.550.

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A previously healthy 15 years-old male was taken to the hospital because of acute onset short-term memory impairment in the last two months. He would ask questions repeatedly and forgot about daily activities. He had no prodromal symptoms or any history of fever, nausea, or diarrhea. Physical examination was normal, except for an episodic memory deficit. Brain magnetic resonance imagin (MRI) was normal, cerebrospinal fluid (CSF) analysis revealed 9/mm³ cell, Hem 255, protein 35, glucose 50. Serology for human immunodeficiency virus, syphilis, and hepatitis were negative. Complete blood count,
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Albuquerque, Renata Camille Gonçalves de, and Hugo Gabriel Feitosa de Souza. "ANÁLISE FISIOTERAPÊUTICA: PACIENTES COM ATAXIA CEREBELAR SOMADA ÀS DISFUNÇÕES NEUROLÓGICAS PÓS COVID-19. UMA REVISÃO DE LITERATURA." In I Congresso Brasileiro de Estudos Patológicos On-line. Revista Multidisciplinar em Saúde, 2022. http://dx.doi.org/10.51161/conbesp/24.

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Introdução: Em 1863 uma síndrome foi descrita, caracterizada e reconhecida clinicamente e patologicamente como sendo a primeira forma de ataxia hereditária, pelo médico e professor anatomista Nicolaus Friedreirich. Mais adiante em 1893, o neurologista francês Pierre Marie designou o termo heredo-ataxia cerebelar, a qual apresentava manifestações específicas e padrões sujestivos característicos de herança autossomica dominante. Atualmente a hérédo-ataxie cérébelleuse, termo em Francês, é conhecida como ataxia cerebelar de Pierre Marie ou de Marie. Assim, as heredoataxias sendo um grupo de doenç
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Souza, Murilo Possani, Fernanda Magalhães Bastos Ribeiro, Margareth Santos Ramires Sigilião, et al. "Acute cerebellar ataxia due to varicella zoster." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774621.

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Dousseau, Gabriella Corrêa, Julian Letícia de Freitas, Luíza Alves Corazza, Cristiane de Araújo Martins Moreno, and Maria Sheila Guimarães Rocha. "Arginase 1 deficiency: a differential for progressive ataxia and intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.466.

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Introduction: Arginase-1 deficiency (OMIM #207800) is a rare autosomal recessive genetic disorder caused by mutations in the ARG1 gene, resulting in partial or complete loss of enzyme function that affects the liver-based urea cycle. Spastic paraparesis with onset in early childhood is the most obvious sign of the disease but other symptoms include irritability, delayed growth and development, ataxia, recurrent vomiting, feeding/protein aversion, and anorexia. Brain imaging may reveal cerebral atrophy and cerebellar atrophy may also occur. The ARG1 gene sits on chromosome 6 (6q23) and there ar
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Wolmer, Paulo Schneider, Thiago Junqueira Ribeiro de Rezende, Fabrício Castro de Borba, and Marcondes Cavalcante França Junior. "Distinct patterns of cerebellar damage in sporadic and ATXN2- related amyotrophic lateral sclerosis." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.511.

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Introduction: Neurodegeneration in amyotrophic lateral sclerosis (ALS) is not confined to the corticospinal tracts and motor neurons. Some studies have lately suggested that the cerebellum is also involved in the disease. Despite that, it is not yet clear whether cerebellar damage is similar in sporadic (sALS) and specific subtypes of familial ALS. This is particularly relevant for ATXN2-related ALS, because this gene is also known to cause cerebellar ataxia (when fully expanded). Objectives: This study aimed to characterize cerebellar damage in vivo in patients with sporadic ALS and ATXN2-ALS
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Yang, Zhen, S. Mazdak Abulnaga, Aaron Carass, et al. "Landmark based shape analysis for cerebellar ataxia classification and cerebellar atrophy pattern visualization." In SPIE Medical Imaging, edited by Martin A. Styner and Elsa D. Angelini. SPIE, 2016. http://dx.doi.org/10.1117/12.2217313.

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Reports on the topic "Cerebellar ataxias"

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wang, ying, Di Zhang, Jiang Ma, Ju Wang, Li Lu, and Song Jin. Effects of Transcranial Magnetic Stimulation on cerebellar Ataxia: A Systematic Review and Meta-Analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.10.0025.

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