| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Flavia Palombo, Alessandro Vaisfeld, Valentina Concetta Tropeano, Danara Ormanbekova, Isabelle Bacchi, Claudio Fiorini, Adelaide Peruzzi, Luca Morandi, Rocco Liguori, Valerio Carelli, Giovanni Rizz. Two more families supporting the existence of monogenic spinocerebellar ataxia 48. Neurogenetics. 2024-04-16. PMID:38625442. |
we here report clinical and genetic results of two apparently unrelated patients carrying the same stub1 variant(c.244g > t;p.asp82tyr) with normal tbp alleles and a clinical picture fully resembling sca48, including cerebellar ataxia, dysarthria and mild cognitive impairment. |
2024-04-16 |
2024-04-18 |
Not clear |
| Carmen Nanclares, Jose Antonio Noriega-Prieto, Francisco E Labrada-Moncada, Marija Cvetanovic, Alfonso Araque, Paulo Kofuj. Altered calcium signaling in Bergmann glia contributes to spinocerebellar ataxia type-1 in a mouse model of SCA1. Neurobiology of disease. 2023-10-06. PMID:37802154. |
spinocerebellar ataxia type 1 (sca1) is a neurodegenerative disease caused by an abnormal expansion of glutamine (q) encoding cag repeats in the ataxin1 (atxn1) gene and characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. |
2023-10-06 |
2023-10-15 |
mouse |
| Kiyotaka Kuroda, Joji Tokugawa, Motoki Yamataka, Kazuki Nishioka, Tetsuya Ueda, Takumi Mitsuhashi, Takashi Mitsuhashi, Makoto Hishi. A case of microcystic meningioma associated with acute subdural hematoma in the posterior cranial fossa. Radiology case reports. vol 17. issue 10. 2022-08-08. PMID:35936886. |
postoperatively, the patient recovered to clear consciousness with sequelae of left cerebellar ataxia, cerebellar dysarthria, and vertigo. |
2022-08-08 |
2023-08-14 |
Not clear |
| b' Ikhlass Haj Salem, Marie Beaudin, Christopher J Klein, Nicolas Dupr\\xc3\\xa. Treatment and Management of Autosomal Recessive Cerebellar Ataxias: Current Advances and Future Perspectives. CNS & neurological disorders drug targets. 2022-04-20. PMID:35440322.' |
the autosomal recessive cerebellar ataxias (arcas) compose a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by prominent cerebellar ataxia, dysmetria, dysarthria, and nystagmus that are inherited in an autosomal recessive fashion. |
2022-04-20 |
2023-08-13 |
Not clear |
| Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues, Elena Pegoraro, Meriem Tazir, Frédéric Taithe, Rémi Valter, Vincent Huin, Kristina Lidström, Guillaume Banneau, Sara Morais, Livia Parodi, Marie Coutelier, Mélanie Papin, Per Svenningsson, Jean-Philippe Azulay, Isabel Alonso, Daniel Nilsson, Alexis Brice, Eric Le Guern, Rayomand Press, Giovanni Vazza, José Leal Loureiro, Cyril Goizet, Alexandra Durr, Martin Paucar, Giovanni Stevani. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics. vol 22. issue 1. 2021-11-18. PMID:33486633. |
cerebellar ataxia with cerebellar atrophy, dysarthria and lower limb weakness are often associated with spasticity. |
2021-11-18 |
2023-08-13 |
Not clear |
| Malihe Mohamadian, Pegah Ghandil, Mohsen Naseri, Afsane Bahrami, Ali Akbar Mome. A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4. Journal of clinical laboratory analysis. vol 34. issue 11. 2021-09-07. PMID:33079427. |
herein, three additional patients in an iranian consanguineous family with non-progressive cerebellar ataxia, severe hypotonia, intellectual disability, dysarthria, and cerebellar atrophy have been identified. |
2021-09-07 |
2023-08-13 |
Not clear |
| Rachel Rabin, Yoel Hirsch, Martin M Johansson, Joseph Ekstein, Ahron Ekstein, John Pappa. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. American journal of medical genetics. Part A. vol 185. issue 5. 2021-08-09. PMID:33682303. |
four siblings were homozygous for the p.(val55ala) variant and presented with cerebellar ataxia with cerebellar vermis hypoplasia, dysarthria, mild developmental delays, and normal/near-normal cognition. |
2021-08-09 |
2023-08-13 |
Not clear |
| Mounika Guduru, Venkata Sunil Bendi, Mariana S Bebawy, Dinesh Bande, Abhishek Matt. Posterior Fossa Progressive Multifocal Leukoencephalopathy Secondary to Rituximab. Cureus. vol 12. issue 10. 2020-11-13. PMID:33178540. |
she presented with subacute cerebellar ataxia, dysarthria, and nystagmus, and her brain mri showed right pontine and pontocerebellar lesion with diffusion restriction and heterogenous enhancement highly characteristic of pml. |
2020-11-13 |
2023-08-13 |
Not clear |
| Jung-Min Pyun, Hyeyoung Park, Kyung Chul Moon, Beomseok Jeo. Late-Onset Langerhans Cell Histiocytosis with Cerebellar Ataxia as an Initial Symptom. Case reports in neurology. vol 8. issue 3. 2020-09-29. PMID:27920713. |
we report the case of a 45-year-old woman admitted after 2 years of slowly progressing cerebellar ataxia, dysarthria, and emotional instability. |
2020-09-29 |
2023-08-13 |
Not clear |
| G K Maximov, K G Maximov, A A Chokoeva, T Lotti, U Wollina, J W Patterson, C Guarneri, C Tana, M Fioranelli, M G Roccia, N Kanazawa, G Tcherne. 5-hydroxytryptamine and Lyme disease. Opportunity for a novel therapy to reduce the cerebellar tremor? Journal of biological regulators and homeostatic agents. vol 30. issue 2 Suppl 2. 2019-03-25. PMID:27373127. |
she was hospitalized three times and diagnosed with cerebellar intention tremor, cerebellar ataxia, dysarthria, bilateral horizontal gaze paralysis and a central lesion of the left facial nerve. |
2019-03-25 |
2023-08-13 |
Not clear |
| Paulette Scholten, Peter Kralt, Bram Jacob. Posterior fossa progressive multifocal leukoencephalopathy: first presentation of an unknown autoimmune disease. BMJ case reports. vol 2017. 2018-07-02. PMID:29025774. |
we present a case of a 57-year-old man who presented with progressive cerebellar dysarthria and cerebellar ataxia. |
2018-07-02 |
2023-08-13 |
Not clear |
| Y-M Sun, C Lu, Z-Y W. Spinocerebellar ataxia: relationship between phenotype and genotype - a review. Clinical genetics. vol 90. issue 4. 2017-07-24. PMID:27220866. |
it is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. |
2017-07-24 |
2023-08-13 |
Not clear |
| Annel Gómez-Coello, Victor Manuel Valadez-Jiménez, Bulmaro Cisneros, Paul Carrillo-Mora, Martha Parra-Cárdenas, Oscar Hernández-Hernández, Jonathan J Magañ. Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations. Journal of voice : official journal of the Voice Foundation. vol 31. issue 1. 2017-06-12. PMID:26992556. |
spinocerebellar ataxia type 7 (sca7) is an inherited neurodegenerative disease caused by the expansion of a cytosine-adenine-guanine triplet located in the coding region of the atxn7 gene, which is characterized by cerebellar ataxia, pigmentary macular degeneration, and dysarthria. |
2017-06-12 |
2023-08-13 |
Not clear |
| C Tranchant, M Anhei. Movement disorders in mitochondrial diseases. Revue neurologique. vol 172. issue 8-9. 2017-05-01. PMID:27476418. |
cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (merff) due to mutations in the mitochondrial transfer rna (trna) lysine gene, in kearns-sayre syndrome due to mtdna deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (sando) due to nuclear polg1 gene mutations, and also in arca2, friedreich's ataxia, spg7, sca28 and autosomal-recessive spastic ataxia of charlevoix-saguenay (arsacs) due to mutations in nuclear genes involved in mitochondrial morphology or function. |
2017-05-01 |
2023-08-13 |
Not clear |
| Mathieu Anheim, Uriel López-Sánchez, Donatella Giovannini, Anne-Claire Richard, Jawida Touhami, Ludovic N'Guyen, Gabrielle Rudolf, Anne Thibault-Stoll, Thierry Frebourg, Didier Hannequin, Dominique Campion, Jean-Luc Battini, Marc Sitbon, Gaël Nicola. XPR1 mutations are a rare cause of primary familial brain calcification. Journal of neurology. vol 263. issue 8. 2017-04-11. PMID:27230854. |
we identified a novel c.260t > c, p.(leu87pro) xpr1 variant in a 41-year-old man complaining of micrographia and dysarthria and demonstrating mild parkinsonism, cerebellar ataxia and executive dysfunction. |
2017-04-11 |
2023-08-13 |
Not clear |
| Aubree Bruhnding, Derek Notch, Albertine Bear. Anti-Yo positive paraneoplastic cerebellar degeneration in the setting of cholangiocarcinoma. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 36. 2017-02-06. PMID:27816258. |
subacute cerebellar ataxia, or paraneoplastic cerebellar degeneration, usually presents in women with a subcate onset of gait instability, followed by progressive limb and trunk ataxia, dysarthria, diplopia, and dysphagia that occurs in the setting of, or precedes the diagnosis of, a gynecologic or breast malignancy and clinically stabilizes within six months. |
2017-02-06 |
2023-08-13 |
Not clear |
| José Berciano, Kristien Peeters, Antonio García, Tomás López-Alburquerque, Elena Gallardo, Arantxa Hernández-Fabián, Ana L Pelayo-Negro, Els De Vriendt, Jon Infante, Albena Jordanov. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. Journal of neurology. vol 263. issue 2. 2016-12-13. PMID:26645395. |
the proband, evaluated at age 31, showed delayed motor milestones that, as of the second decade, evolved into severe phenotype consisting of sensorimotor neuropathy, pes cavus, clawing hands, gait and kinetic cerebellar ataxia, nystagmus and dysarthria, she being wheelchair bound. |
2016-12-13 |
2023-08-13 |
Not clear |
| Katsuya Nishida, Holly J Garringer, Naonobu Futamura, Itaru Funakawa, Kenji Jinnai, Ruben Vidal, Masaki Taka. A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. Journal of the neurological sciences. vol 342. issue 1-2. 2015-04-06. PMID:24825732. |
we report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal tract signs, and psychiatric symptoms. |
2015-04-06 |
2023-08-13 |
Not clear |
| Hiroyuki Morino, Ryosuke Miyamoto, Shizuo Ohnishi, Hirofumi Maruyama, Hideshi Kawakam. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. BMC neurology. vol 14. 2014-09-23. PMID:24397319. |
spinocerebellar ataxias (scas) are heterogeneous diseases characterized by progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment. |
2014-09-23 |
2023-08-12 |
Not clear |
| Manuel Pérez Akly, Fernando Alvare. [Late onset Friedreich ataxia: clinical description of a family in Argentina]. Medicina. vol 73. issue 5. 2014-08-18. PMID:24152405. |
molecular testing gaa expansions in the fa gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception. |
2014-08-18 |
2023-08-12 |
Not clear |