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Journal articles on the topic 'Ataxia - etiology'

Author: Grafiati

Published: 11 December 2022

Last updated: 31 July 2025

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1

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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5

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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Srivastava, R., A. Yaworski, S. Jain, H. Goez, J. Kassiri, and L. Richer. "P.128 Episodic ataxia and encephalitis: A novel presentation of RESLES in a 3-year-old girl." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S50. http://dx.doi.org/10.1017/cjn.2018.230.

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Background: Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological entity associated with multiple etiologies including infection, metabolic, and epileptic disorders. We describe the case of a child with a reversible splenial lesion who presented with encephalopathy and prior history of episodic ataxia. Methods: A 3-year-old girl presented to the Stollery Children’s hospital with three days of respiratory symptoms followed by acute onset ataxia and encephalopathy. Blood, respiratory samples, and cerebral spinal fluid (CSF) were drawn to investigate for infectious, autoimmu

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Paslawski, Teresa, Joseph R. Duffy, and Steven Vernino. "Speech and Language Findings Associated With Paraneoplastic Cerebellar Degeneration." American Journal of Speech-Language Pathology 14, no. 3 (2005): 200–207. http://dx.doi.org/10.1044/1058-0360(2005/020).

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Paraneoplastic cerebellar degeneration (PCD) is an autoimmune disease that can be associated with cancer of the breast, lung, and ovary. The clinical presentation of PCD commonly includes ataxia, visual disturbances, and dysarthria. The speech disturbances associated with PCD have not been well characterized, despite general acceptance that dysarthria is often part of the initial presentation. A retrospective study was conducted of the speech, language, and swallowing concerns of patients with PCD evaluated at the Mayo Clinic in Rochester, MN, between 1990 and 2001. Prospective speech and lang

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Abele, M., M. Minnerop, H. Urbach, K. Specht, and T. Klockgether. "Sporadic adult onset ataxia of unknown etiology." Journal of Neurology 254, no. 10 (2007): 1384–89. http://dx.doi.org/10.1007/s00415-007-0556-1.

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Bremova-Ertl, Tatiana, Jan Hofmann, Janine Stucki, Anja Vossenkaul, and Matthias Gautschi. "Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options." Cells 12, no. 18 (2023): 2314. http://dx.doi.org/10.3390/cells12182314.

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A number of hereditary ataxias are caused by inborn errors of metabolism (IEM), most of which are highly heterogeneous in their clinical presentation. Prompt diagnosis is important because disease-specific therapies may be available. In this review, we offer a comprehensive overview of metabolic ataxias summarized by disease, highlighting novel clinical trials and emerging therapies with a particular emphasis on first-in-human gene therapies. We present disease-specific treatments if they exist and review the current evidence for symptomatic treatments of these highly heterogeneous diseases (w

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Khanenko, N., R. Sulik, N. Svyrydova, et al. "Lecture on neurology for intern doctors «Ataxia: etiology, pathogenesis, clinical features»." East European Journal of Neurology, no. 6(18) (December 20, 2018): 30–36. http://dx.doi.org/10.33444/2411-5797.2017.6(18).30-36.

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Lecture on neurology for internists "Ataxia: etiology, pathogenesis, clinical features" reveals the most important clinical manifestations of various forms of ataxia with a disorder of the function of balance and coordination of movements. Most doctors, due to the dominance of ideas about the association of dizziness and imbalance of the body with the pathology of the vestibular apparatus, often do not take into account the essential role of various diseases of the central nervous system and the appearance of these symptoms, therefore the disorder of this pathology in the lecture course for in

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Pilotto, Federica, Andrea Del Bondio, and Hélène Puccio. "Hereditary Ataxias: From Bench to Clinic, Where Do We Stand?" Cells 13, no. 4 (2024): 319. http://dx.doi.org/10.3390/cells13040319.

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Cerebellar ataxias are a wide heterogeneous group of movement disorders. Within this broad umbrella of diseases, there are both genetics and sporadic forms. The clinical presentation of these conditions can exhibit a diverse range of symptoms across different age groups, spanning from pure cerebellar manifestations to sensory ataxia and multisystemic diseases. Over the last few decades, advancements in our understanding of genetics and molecular pathophysiology related to both dominant and recessive ataxias have propelled the field forward, paving the way for innovative therapeutic strategies

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Shobana, Sridhar, Krishnakumar Revathi, and Thirunavukkarasu Bharath Kumar. "Post Traumatic Cerebellar Ataxia – A Least Pondered Diagnosis: A Case Report." Journal of Nepal Paediatric Society 42, no. 2 (2022): 92–93. http://dx.doi.org/10.3126/jnps.v42i2.42915.

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Ataxia means impaired co-ordination of voluntary muscle movement. It is a physical finding, not a disease and the underlying etiology needs to be investigated. It can be the patient’s presenting complaint or a component among other presenting symptoms. Cerebellar dysfunction or impaired vestibular or proprioceptive input to cerebellum can cause ataxia. Though there are several etiologies post infectious ataxia is the most common one in children. But other rare etiologies of ataxia should also be considered based on the clinical presentation. We try to emphasise on this point by presenting a ca

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Wan, Na, Zhao Chen, Linlin Wan, et al. "Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias." Parkinsonism & Related Disorders 89 (August 2021): 120–27. http://dx.doi.org/10.1016/j.parkreldis.2021.07.010.

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Cerrato, Valentina. "Cerebellar Astrocytes: Much More Than Passive Bystanders In Ataxia Pathophysiology." Journal of Clinical Medicine 9, no. 3 (2020): 757. http://dx.doi.org/10.3390/jcm9030757.

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Ataxia is a neurodegenerative syndrome, which can emerge as a major element of a disease or represent a symptom of more complex multisystemic disorders. It comprises several forms with a highly variegated etiology, mainly united by motor, balance, and speech impairments and, at the tissue level, by cerebellar atrophy and Purkinje cells degeneration. For this reason, the contribution of astrocytes to this disease has been largely overlooked in the past. Nevertheless, in the last few decades, growing evidences are pointing to cerebellar astrocytes as crucial players not only in the progression b

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Emamikhah, Maziar, Sharmin Aghavali, Fatemeh Moghadas, et al. "Spinocerebellar Ataxia 40: Another Etiology Underlying Essential Tremor Syndrome." Movement Disorders Clinical Practice 8, no. 6 (2021): 944–46. http://dx.doi.org/10.1002/mdc3.13251.

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Mearns, Elizabeth, Aliki Taylor, Kelly Thomas Craig, et al. "Neurological Manifestations of Neuropathy and Ataxia in Celiac Disease: A Systematic Review." Nutrients 11, no. 2 (2019): 380. http://dx.doi.org/10.3390/nu11020380.

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Celiac disease (CD) is an immune-mediated gastrointestinal disorder driven by innate and adaptive immune responses to gluten. Patients with CD are at an increased risk of several neurological manifestations, frequently peripheral neuropathy and gluten ataxia. A systematic literature review of the most commonly reported neurological manifestations (neuropathy and ataxia) associated with CD was performed. MEDLINE, Embase, the Cochrane Library, and conference proceedings were systematically searched from January 2007 through September 2018. Included studies evaluated patients with CD with at leas

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Jani, Shreya N., and Mayank Prajapati. "Case Report: Cerebral Autosomal Dominant Arteriopathy with Sub-Cortical Infarcts and Leukoencephalopathy (CADASIL) with Ataxia." Global Academic Journal of Pharmacy and Drug Research 5, no. 06 (2023): 61–63. http://dx.doi.org/10.36348/gajpdr.2023.v05i06.001.

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Mood disorders, cognitive decline, headaches, and stroke are among the key symptoms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, or CADASIL [1]. Rarely, ataxia has been noted as a presenting ailment in this case [2]. A man 48 years of age showed signs of developing ataxia. Magnetic resonance imaging (MRI) of the brain showed focal tiny infarct in lest internal capsule, subacute intraparenchymal hemorrhage involving lest temporal lobe, few old lacunal infarct in bilateral ganglio capsular region, right thalamus and bilateral fronto-parietal peri

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Cecchin, Vanessa, Serena Pellegrin, Lucio Parmeggiani, Lydia Pescollderungg, and Federico Mercolini. "Subacute-Onset Afferent Ataxia in Childhood: A Case Report." Journal of Pediatric Neurology 18, no. 04 (2019): 190–94. http://dx.doi.org/10.1055/s-0039-1688721.

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AbstractAcute or subacute ataxia in young children is rare and, in most cases, the diagnosis of the underlying etiology can be challenging. An extensive number of possible causes must be considered when approaching a child with ataxia. We report the case of a 21-month-old girl with subacute-onset rapidly progressive ataxia, occurring few days after a gastrointestinal infection, without clear reduction of muscle strength in the limbs or other neurological signs. The development of a mild hyporeflexia of the lower limbs, thereafter, led to the suspicion of a Guillain–Barré syndrome (GBS) that wa

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Krygier, Magdalena, and Maria Mazurkiewicz-Bełdzińska. "Milestones in genetics of cerebellar ataxias." neurogenetics 22, no. 4 (2021): 225–34. http://dx.doi.org/10.1007/s10048-021-00656-3.

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AbstractCerebellar ataxias (CAs) comprise a group of rare, neurological disorders characterized by extensive phenotypic and genetic heterogeneity. The core clinical feature is the cerebellar syndrome, which is often accompanied by other neurological or non-neurological signs. In the last 30 years, our understanding of the CA etiology has increased significantly, and numerous ataxia-associated genes have been discovered. Conventional variants or tandem repeat expansions, localized in the coding or non-coding DNA sequences, lead to hereditary ataxia, which can display different patterns of inher

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Szymanowicz, Oliwia, Artur Drużdż, Bartosz Słowikowski, et al. "A Review of the CACNA Gene Family: Its Role in Neurological Disorders." Diseases 12, no. 5 (2024): 90. http://dx.doi.org/10.3390/diseases12050090.

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Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Specifically, variants in CACNA1A have been linked to familial hemipleg

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Salman, Michael S., Shaheen Masood, Meghan Azad, and Bernard N. Chodirker. "Ethnicity and Geographic Distribution of Pediatric Chronic Ataxia in Manitoba." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 41, no. 1 (2014): 29–36. http://dx.doi.org/10.1017/s031716710001622x.

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Background:Genetic and environmental factors are important determinants of disease distribution. Several disorders associated with ataxia are known to occur more commonly in certain ethnic groups; for example, the disequilibrium syndrome in the Hutterites. The aim of this study was to determine the ethnic and geographic distribution of pediatric patients with chronic ataxia in Manitoba, Canada.Methods:We identified 184 patients less than 17 years-of-age with chronic ataxia during 1991-2008 from multiple sources. Their diagnosis, ethnicity and place of residence were determined following a char

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Sak, Işıl, Deniz Kızılırmak, Yavuz Havlucu, Zeynep Yılmaz, and Pınar Çelik. "The investigated case of etiology of chylous pleural effusion: Ataxia-telangiectasia." Tuberk Toraks 70, no. 1 (2022): 102–6. http://dx.doi.org/10.5578/tt.20229912.

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Nuzhnyi, E. P., and S. N. Illarioshkin. "Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): literature review." Neuromuscular Diseases 10, no. 3 (2020): 27–34. http://dx.doi.org/10.17650/2222-8721-2020-10-3-27-34.

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic pentanucleotide AAGGG expansion carriage in the RFC1 gene. With the advent of genetic diagnostics, the understanding of the phenotypic spectrum and variety of clinical manifestations of this disease has expanded, including a combination of cerebellar ataxia and sensory neuropathy, as well as isolated sensory polyneuropathy/ganglionopathy. This revie

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Hardie, RJ, KA Linn, and VT Rendano. "Spinal meningeal cyst in a dog: a case report and literature review." Journal of the American Animal Hospital Association 32, no. 6 (1996): 477–80. http://dx.doi.org/10.5326/15473317-32-6-477.

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A two-year-old, female Chinese shar pei was presented with a one-year history of ataxia involving the pelvic limbs. The neurological lesion was localized to the thoracolumbar region of the spinal cord. A cyst involving the dorsal subarachnoid space at the level of the 12th thoracic vertebral body was identified with myelography. The diagnosis of a meningeal cyst was made, and surgical treatment consisting of a dorsal laminectomy and cyst fenestration was performed. The pelvic-limb ataxia improved, and the owners considered the dog to be normal three months after surgery. The classification, et

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Salman, Michael S., Bernard N. Chodirker, and Martin Bunge. "Neuroimaging Findings and Repeat Neuroimaging Value in Pediatric Chronic Ataxia." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 43, no. 6 (2016): 824–32. http://dx.doi.org/10.1017/cjn.2016.7.

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AbstractBackground: Chronic ataxia, greater than two months in duration, is encountered relatively commonly in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by multiple and diverse disorders. Our aims were to describe the neuroimaging features and the value of repeat neuroimaging in pediatric chronic ataxia to ascertain their contribution to the diagnosis and management. Materials and Methods: A retrospective charts and neuroimaging reports review was undertaken in 177 children with chronic ataxia. Neuroimaging in 130 of 177 patients was also revie

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Alavi, Samin, Ali Kord Valeshabad, Borhan Moradveisi, Ali Aminasnafi, and Mohammad Taghi Arzanian. "Clinical Responses to Rituximab in a Case of Neuroblastoma with Refractory Opsoclonus Myoclonus Ataxia Syndrome." Case Reports in Oncological Medicine 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/164082.

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Opsoclonus myoclonus ataxia syndrome (OMS) is a rare neurologic syndrome. In a high proportion of children, it is associated with neuroblastoma. The etiology of this condition is thought to be immune mediated. In children, immunotherapy with conventional treatments such as corticosteroids, intravenous immunoglobulin, adrenocorticotropic hormone, and even antiepileptic drugs has been tried. Recently rituximab has been used safely for refractory OMS in children with neuroblastoma. Our patient was a 3.5-year-old girl referred for ataxia and dancing eye movements starting since 1.5 years ago. She

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Algahtani, Hussein, Bader Shirah, and Muhammad Imran Naseer. "Clinical and Molecular Characteristics of A Novel Homozygous DNAJC3 Gene Variant in a Saudi family." Pakistan Journal of Medical and Health Sciences 17, no. 9 (2023): 35–36. http://dx.doi.org/10.53350/pjmhs202317935.

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Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus is an extremely rare neurodegenerative disorder affecting the central and peripheral nervous systems. The pathogenesis of widespread neurodegeneration in previously reported cases with homozygousDNAJC3mutations is proposed to be caused by a common etiology that is mitochondrial dysfunction and loss of mitigation of the endoplasmic reticulum stress response. In this paper, we reported a rare case of combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus in a Saudi family with a novel hom

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Giordano, Ilaria, Florian Harmuth, Heike Jacobi, et al. "Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia." Neurology 89, no. 10 (2017): 1043–49. http://dx.doi.org/10.1212/wnl.0000000000004311.

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Objective:To define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations.Methods:The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing.Results:The analysis was performed on 249 participants. Among them, 83 met diagnostic criteria of clinically probable multiple system atrophy cerebellar type (MSA-C) at baseline and another 12 dur

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Zhou, Chenguang, Haixia Fan, Hao Chen, et al. "Evaluation of Clinical Features and Stroke Etiology in Patients with Bilateral Middle Cerebellar Peduncle Infarction." European Neurology 83, no. 3 (2020): 271–78. http://dx.doi.org/10.1159/000508835.

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Objective: The aim of this study was to characterize clinical features, etiologies, and mechanisms of strokes due to bilateral middle cerebellar peduncle infarction (BMCPI). Methods: Cases diagnosed as BMCPI in our hospital were retrieved, and a literature review was performed. Data on clinical features and brain MRI were obtained. Extracranial and intracranial segments of the vertebrobasilar artery were assessed by using digital subtraction angiography, magnetic resonance angiography, or computed tomography angiography. Results: Thirteen cases (11 men and 2 women) of BMCPI were identified. A

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Jain, Deepak, Gourab Bhaduri, Kajaree Giri, Vikas Balania, and Promil Jain. "Underlying coeliac disease in a case of cerebellar ataxia with unknown etiology." Archive of Clinical Cases 06, no. 01 (2019): 22–25. http://dx.doi.org/10.22551/2019.22.0601.10149.

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Monfrini, Edoardo, Alba Pesini, Fabio Biella, et al. "Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency." Neurology Genetics 9, no. 2 (2023): e200058. http://dx.doi.org/10.1212/nxg.0000000000200058.

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Background and ObjectivesCoenzyme Q10(CoQ10)–deficient cerebellar ataxia can be due to pathogenic variants in genes encoding for CoQ10biosynthetic proteins or associated with defects in protein unrelated to its biosynthesis. Diagnosis is crucial because patients may respond favorably to CoQ10supplementation. The aim of this study was to identify through whole-exome sequencing (WES) the pathogenic variants, and assess CoQ10levels, in fibroblasts from patients with undiagnosed cerebellar ataxia referred to investigate CoQ10deficiency.MethodsWES was performed on genomic DNA extracted from 16 pati

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Jayasinghe, Amila Udayangani, and Hemantha Kumarihamy. "Unknown Etiology for Ataxia and Vertigo After Trigeminal Nerve Block: A Case Report." A&A Practice 16, no. 6 (2022): e01598. http://dx.doi.org/10.1213/xaa.0000000000001598.

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Kim, Sanghyun, Jusuck Lee, and Daewoong Bae. "Miller Fisher syndrome initially presented as bilateral internuclear ophthalmoplegia: a case report." Research in Vestibular Science 24, no. 1 (2025): 46–49. https://doi.org/10.21790/rvs.2024.028.

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Miller Fisher syndrome can present with various forms of ophthalmoplegia. This case report describes a 57-year-old woman who initially showed bilateral internuclear ophthalmoplegia (INO), with normal imaging and laboratory findings. Her neurologic symptoms progressed to include hyporeflexia and ataxia, leading to a diagnosis of Miller Fisher syndrome. Intravenous immunoglobulin treatment resulted in gradual improvement. This case report highlights the need to consider rare conditions like Miller Fisher syndrome in patients with INO-like features and unclear etiology.

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Lepoura, Alexandra, Sofia Lampropoulou, Antonis Galanos, et al. "Effects of Functional Partial Body Weight Support Treadmill Training on Mobility in Children with Ataxia: A Randomized Controlled Trial." Journal of Functional Morphology and Kinesiology 10, no. 2 (2025): 123. https://doi.org/10.3390/jfmk10020123.

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Background/Objectives: Ataxia is quite common in pediatric neuromotor disorders and has a highly heterogeneous etiology. Mobility difficulties and functional limitations reflect the lack of coordination in this population. The aim of this study is to assess the effectiveness of an intensive program of Functional Partial Body Weight Support Treadmill Training (FPBWSTT) on the mobility and functionality of children with ataxia. Methods: Through a stratified randomized control trial, a sample of 18 children with progressive and non-progressive ataxia and GMFCS II-IV (mean age: 14 years; standard

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Teive, Hélio A. G. "Spinocerebellar ataxias." Arquivos de Neuro-Psiquiatria 67, no. 4 (2009): 1133–42. http://dx.doi.org/10.1590/s0004-282x2009000600035.

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Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE: To carry out a clinical and genetic review of the main types of SCA. METHOD: The review was based on a search of the PUBMED and OMIM databases. RESULTS: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been iden

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Yılmaz, Buket Özkara. "Paraneoplastic opsoclonus-myoclonus syndrome as a rare presentation of parotid adenocarcinoma." Journal of Surgery and Medicine 8, no. 5 (2024): 00. http://dx.doi.org/10.28982/josam.7701.

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Paraneoplastic Opsoclonus-Myoclonus Ataxia Syndrome (POMA) is a rare neurological condition that affects approximately 1 in 10,000,000 people annually. This syndrome is poorly understood and can lead to long-term cognitive, behavioral, and motor complications. Opsoclonus is characterized by involuntary, rapid, repetitive, multi-vectorial oscillations of the eyes occurring in all directions of gaze. It is accompanied by diffuse or focal body myoclonus and may or may not include ataxia and other cerebellar signs. POMA is typically a paraneoplastic syndrome associated with neuroblastoma in childh

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O’Keefe, Elizabeth, Katherine E. Schwetye, John Nazarian, Richard Perrin, Robert E. Schmidt, and Robert Bucelli. "A 66-Year-Old Woman with a Progressive, Longitudinally Extensive, Tract Specific, Myelopathy." Case Reports in Neurological Medicine 2016 (2016): 1–9. http://dx.doi.org/10.1155/2016/4125294.

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A 66-year-old woman presented with progressive lancinating pain and sensory deficits attributable to a myelopathy of unclear etiology. Spinal cord magnetic resonance imaging showed a longitudinally extensive T2-hyperintense lesion of the dorsal columns. Comprehensive serum, urine, and cerebrospinal fluid analyses failed to identify an etiology. Empiric intravenous methylprednisolone and intravenous immunoglobulin were of no benefit and serial screens for an occult malignancy were negative. She developed dysesthesias and allodynia affecting her entire body and lost the use of her arms and legs

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Marsili, Luca, Kevin R. Duque, Jesus Abanto, et al. "Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic." Biomedicines 12, no. 12 (2024): 2673. http://dx.doi.org/10.3390/biomedicines12122673.

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Background: Rare movement disorders often have a genetic etiology. New technological advances have increased the odds of achieving genetic diagnoses: next-generation sequencing (NGS) (whole-exome sequencing—WES; whole-genome sequencing—WGS) and long-read sequencing (LRS). In 2017, we launched a WES program for patients with rare movement disorders of suspected genetic etiology. We aim to describe the accumulated experience of a modern movement disorder genetic clinic, highlighting how different available genetic tests might be prioritized according to the clinical phenotype and pattern of inhe

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Vuchkova, B., D. Iliev, Kristina Dimitrova, and M. Dimitrova. "Acute cerebellitis in adult patient: a case report." Bulgarian Neurology 25, no. 2 (2024): 72–74. https://doi.org/10.5281/zenodo.15360372.

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Introduction: Acute cerebellitis is a rare inflammatory disease of the cerebellum, with etiology and pathogenesis not fully understood, with diverse clinical presentation and good prognosis. The condition is highly common in children and is associated with viral infections, parainfectious or post-vaccination. Patients are most often presented with headache, vomiting, acute ataxia, discoordination, or meningo-radicular syndrome. Early diagnosis and multidisciplinary treatment are crucial for the outcome of the disease. Magnetic resonance imaging (MRI) remains the gold standard in diagnosis.Aim:

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POLIZOPOULOU (Ζ. Σ. ΠΟΛΥΖΟΠΟΥΛΟΥ), Z. S., A. F. KOUTINAS (Α.Φ. ΚΟΥΤΙΝΑΣ), and C. K. KOUTINAS (X.Κ. ΚΟΥΤΙΝΑΣ). "Posterior ataxia-paraparesis syndrome in the large-breed dog." Journal of the Hellenic Veterinary Medical Society 53, no. 2 (2018): 119. http://dx.doi.org/10.12681/jhvms.15368.

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The most common conditions associated with the posterior ataxia-paraparesis syndrome in large breed dogs are degenerative myelopathy, type II intervertebral disk disease, spinal cord neoplasms (extradural, extramedullary, intradural, intramedullary), cervical vertebral malformation-malarticulation, lumbosacral spondylopathy, diskospondylitis and distemper myelitis. These progressive myelopathies, which are often seen in aging dogs, are characterized clinically by posterior ataxia and UMN and/or LMN paraparesis that may result in paraplegia late in the course of the disease. In a certain number

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Maqsood, Muhammad Haisum, Kinza Rubab, and Muhammad Zaigham Maqsood. "Misdiagnosed case of bicker staff brainstem encephalitis." Professional Medical Journal 26, no. 08 (2019): 1386–88. http://dx.doi.org/10.29309/tpmj/2019.26.08.3135.

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Bickerstaff’s brainstem encephalitis (BBE) is a rare neurological disease characterized by ophthalmoplegia, ataxia and altered sensorium.1 Its etiology is thought to be autoimmune in nature and sometimes certain infections precede illness.2-4 It is a spectrum of illnesses with Guillain-Barre Syndrome (GBS) and Miller Fischer Syndrome (MFS).5-6 We describe an atypical case of BBE which was initially misdiagnosed as meningo-encephalitis. As such, we report this case for its rarity. Informed consent was received from the patient before undertaking and reporting this study.

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Ozel, Osman, Eugene Lai, Maya Ramy, et al. "Acute Autoimmune Encephalitis With Features of Bickerstaff Brainstem Encephalitis (BBE) and Two Abnormal Autoantibodies Presenting With Prominent Cerebellar Abnormality on MRI–A Case Report." Neurology 99, no. 23 Supplement 2 (2022): S58.2—S59. http://dx.doi.org/10.1212/01.wnl.0000903464.94171.d5.

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ObjectiveTo present an unusual cerebellar imaging finding of a patient with clinical features of BBEBackgroundBBE is characterized by progressive ataxia, ophthalmoplegia and impaired consciousness. Magnetic resonance imaging (MRI) of the brain is usually normal. However, rare T2 Flair changes have been reported. Scarcity of cerebellar findings on imaging led to the controversy of peripheral vs central etiology for the ataxia. Despite other modalities including positron emission tomography, magnetic resonance spectroscopy and molecular level evidence pointing towards involvement of the cerebell

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Aripova, Naira F., and Umida T. Omonova. "CLINICAL CASE OF MULTISYSTEM ATROPHY WITH PARKINSONISM." American Journal of Medical Sciences and Pharmaceutical Research 6, no. 7 (2024): 34–37. http://dx.doi.org/10.37547/tajmspr/volume06issue07-05.

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Multiple system atrophy (MSA) is a steadily progressive neurodegenerative disease involving the pyramidal system, cerebellum, and autonomic nervous systemх[1]. MSA is an α-synucleinopathy with specific glioneuronal degeneration involving striatonigral, olivopontocerebellar, and autonomic nervous systems but also other parts of the central and peripheral nervous systems[3]. Clinical manifestations include hypotension, urinary retention, constipation, ataxia, parkinsonism, and postural instability. Multiple system atrophy affects both men and women equally, the first symptoms usually appear afte

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Chandler, Erika, Nicole Arvantis, and Bethanie Morgan. "A Novel Case of Idiopathic MGluR1 Encephalitis in a Pediatric Patient." Child Neurology Open 9 (January 2022): 2329048X2210956. http://dx.doi.org/10.1177/2329048x221095695.

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Metabotropic Glutamate Receptor 1 (mGluR1) encephalitis is a rare encephalitis characterized by ataxia, neuropsychiatric symptoms, dysarthria and cognitive impairment. This disease process has been described in several adult patients and has been associated with paraneoplastic syndrome in Hodgkin's lymphoma and other cancers as well as parainfectious and underlying autoimmune etiologies. However, only two cases of anti-mGluR1 encephalitis in children have been reported in the literature. The underlying etiology of one case was not provided but post-infectious disease has been reported. Here, w

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Chandler, Erika, Nicole Arvantis, and Bethanie Morgan. "A Novel Case of Idiopathic MGluR1 Encephalitis in a Pediatric Patient." Child Neurology Open 9 (January 2022): 2329048X2210956. http://dx.doi.org/10.1177/2329048x221095695.

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Metabotropic Glutamate Receptor 1 (mGluR1) encephalitis is a rare encephalitis characterized by ataxia, neuropsychiatric symptoms, dysarthria and cognitive impairment. This disease process has been described in several adult patients and has been associated with paraneoplastic syndrome in Hodgkin's lymphoma and other cancers as well as parainfectious and underlying autoimmune etiologies. However, only two cases of anti-mGluR1 encephalitis in children have been reported in the literature. The underlying etiology of one case was not provided but post-infectious disease has been reported. Here, w

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