| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| O Gebus, S Montaut, B Monga, T Wirth, C Cheraud, C Alves Do Rego, I Zinchenko, G Carré, M Hamdaoui, G Hautecloque, L Nguyen-Them, B Lannes, J B Chanson, O Lagha-Boukbiza, M C Fleury, D Devys, G Nicolas, G Rudolf, M Bereau, M Mallaret, M Renaud, C Acquaviva, M Koenig, M Koob, S Kremer, I J Namer, C Cazeneuve, A Echaniz-Laguna, C Tranchant, Mathieu Anhei. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. Journal of neurology. vol 264. issue 6. 2018-03-19. PMID:28478596. |
we aimed at describing the different causes of sporadic late-onset cerebellar ataxias that were diagnosed following standardized, exhaustive investigations and the population characteristics according to the aetiologies as well as at evaluating the relevance of these investigations. |
2018-03-19 |
2023-08-13 |
Not clear |
| O Gebus, S Montaut, B Monga, T Wirth, C Cheraud, C Alves Do Rego, I Zinchenko, G Carré, M Hamdaoui, G Hautecloque, L Nguyen-Them, B Lannes, J B Chanson, O Lagha-Boukbiza, M C Fleury, D Devys, G Nicolas, G Rudolf, M Bereau, M Mallaret, M Renaud, C Acquaviva, M Koenig, M Koob, S Kremer, I J Namer, C Cazeneuve, A Echaniz-Laguna, C Tranchant, Mathieu Anhei. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. Journal of neurology. vol 264. issue 6. 2018-03-19. PMID:28478596. |
sporadic late-onset cerebellar ataxias should be exhaustively investigated to identify the underlying causes that are numerous, including inherited causes, but dominated by multiple system atrophy. |
2018-03-19 |
2023-08-13 |
Not clear |
| D Barragan-Martinez, N Nunez-Enamorado, M Berenguer-Potenciano, N Villora-Morcillo, A Martinez de Aragon, A Camacho-Sala. [Language disorders in acute cerebellitis: beyond dysarthria]. Revista de neurologia. vol 64. issue 1. 2018-03-09. PMID:28000909. |
among the wide range of manifestations, headache and ataxia being the most predominant, we can find other less frequent, although nonetheless interesting, ones, such as language disorders, which go beyond the well-known cerebellar dysarthria. |
2018-03-09 |
2023-08-13 |
Not clear |
| Michael Lattke, Stephanie N Reichel, Alexander Magnutzki, Alireza Abaei, Volker Rasche, Paul Walther, Dinis P Calado, Boris Ferger, Thomas Wirth, Bernd Bauman. Transient IKK2 activation in astrocytes initiates selective non-cell-autonomous neurodegeneration. Molecular neurodegeneration. vol 12. issue 1. 2018-02-22. PMID:28193238. |
inflammatory cerebellar ataxias are neurodegenerative diseases occurring in various autoimmune/inflammatory conditions, e.g. |
2018-02-22 |
2023-08-13 |
Not clear |
| Elisa Fucà, Michela Guglielmotto, Enrica Boda, Ferdinando Rossi, Ketty Leto, Annalisa Buff. Preventive motor training but not progenitor grafting ameliorates cerebellar ataxia and deregulated autophagy in tambaleante mice. Neurobiology of disease. vol 102. 2018-02-21. PMID:28237314. |
treatment options for degenerative cerebellar ataxias are currently very limited. |
2018-02-21 |
2023-08-13 |
mouse |
| Pratap Meera, Stefan Pulst, Thomas Oti. A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2. eLife. vol 6. 2018-02-12. PMID:28518055. |
metabotropic glutamate receptor 1 (mglur1) function in purkinje neurons (pns) is essential for cerebellar development and for motor learning and altered mglur1 signaling causes ataxia. |
2018-02-12 |
2023-08-13 |
mouse |
| Young Ok Kim, Misun Yun, Jae Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Wo. A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy. Journal of Korean medical science. vol 32. issue 11. 2018-01-29. PMID:28960046. |
progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. |
2018-01-29 |
2023-08-13 |
Not clear |
| João Valente Duarte, Ricardo Faustino, Mercês Lobo, Gil Cunha, César Nunes, Carlos Ferreira, Cristina Januário, Miguel Castelo-Branc. Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3. Human brain mapping. vol 37. issue 10. 2018-01-16. PMID:27273236. |
discrimination analysis based on bold signal in response to the applied parametric finger-tapping task significantly often reached >80% sensitivity and specificity in single regions-of-interest.functional fingerprints based on cerebellar and cortical bold performance dependent signal modulation can thus be combined as diagnostic and/or therapeutic targets in hereditary ataxia. |
2018-01-16 |
2023-08-13 |
human |
| Mojgan Babanejad, Omid Ali Adeli, Nooshin Nikzat, Maryam Beheshtian, Hakimeh Azarafra, Farnaz Sadeghnia, Marzieh Mohseni, Hossein Najmabadi, Kimia Kahriz. SLC52A2 mutations cause SCABD2 phenotype: A second report. International journal of pediatric otorhinolaryngology. vol 104. 2018-01-16. PMID:29287867. |
autosomal recessive cerebellar ataxias (arcas) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. |
2018-01-16 |
2023-08-13 |
Not clear |
| G Urkasemsin, D M Nielsen, A Singleton, S Arepalli, D Hernandez, C Agler, N J Olb. Genetics of Hereditary Ataxia in Scottish Terriers. Journal of veterinary internal medicine. vol 31. issue 4. 2018-01-03. PMID:28556454. |
scottish terriers have a high incidence of juvenile onset hereditary ataxia primarily affecting the purkinje neuron of the cerebellar cortex and causing slowly progressive cerebellar dysfunction. |
2018-01-03 |
2023-08-13 |
Not clear |
| Mathilde Renaud, Christine Tranchant, Juan Vicente Torres Martin, Fanny Mochel, Matthis Synofzik, Bart van de Warrenburg, Massimo Pandolfo, Michel Koenig, Stefan A Kolb, Mathieu Anhei. A recessive ataxia diagnosis algorithm for the next generation sequencing era. Annals of neurology. vol 82. issue 6. 2018-01-01. PMID:29059497. |
differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. |
2018-01-01 |
2023-08-13 |
Not clear |
| Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. |
short-term succinic acid treatment mitigates cerebellar mitochondrial oxphos dysfunction, neurodegeneration and ataxia in a purkinje-specific spinocerebellar ataxia type 1 (sca1) mouse model. |
2017-12-29 |
2023-08-13 |
mouse |
| Austin Ferro, Emily Carbone, Jenny Zhang, Evan Marzouk, Monica Villegas, Asher Siegel, Donna Nguyen, Thomas Possidente, Jessilyn Hartman, Kailen Polley, Melissa A Ingram, Georgia Berry, Thomas H Reynolds, Bernard Possidente, Kimberley Frederick, Stephen Ives, Sarita Lagalwa. Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model. PloS one. vol 12. issue 12. 2017-12-29. PMID:29211771. |
mitochondrial dysfunction plays a significant role in neurodegenerative disease including ataxias and other movement disorders, particularly those marked by progressive degeneration in the cerebellum. |
2017-12-29 |
2023-08-13 |
mouse |
| Kavita Thakkar, Stephen M Maricich, Gulay Alpe. Acute Ataxia in Childhood: 11-Year Experience at a Major Pediatric Neurology Referral Center. Journal of child neurology. vol 31. issue 9. 2017-12-27. PMID:27071467. |
of the 120 cases identified over the past 11 years, post-infectious cerebellar ataxia was the most commonly diagnosed (59%), followed by drug intoxication, opsoclonus-myoclonus ataxia syndrome, episodic ataxia, acute cerebellitis, cerebellar stroke, adem, meningitis, cerebral vein thrombosis, leigh's disease, miller-fisher syndrome, and concussion. |
2017-12-27 |
2023-08-13 |
Not clear |
| Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soon. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one. vol 12. issue 11. 2017-12-26. PMID:29186133. |
mutational analysis of itpr1 in a taiwanese cohort with cerebellar ataxias. |
2017-12-26 |
2023-08-13 |
Not clear |
| Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soon. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one. vol 12. issue 11. 2017-12-26. PMID:29186133. |
mutations in itpr1 have been implicated in inherited cerebellar ataxias. |
2017-12-26 |
2023-08-13 |
Not clear |
| Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soon. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one. vol 12. issue 11. 2017-12-26. PMID:29186133. |
the aim of this study was to investigate the role of itpr1 mutations, including both large segmental deletion and single nucleotide mutations, in a han chinese cohort with inherited cerebellar ataxias in taiwan. |
2017-12-26 |
2023-08-13 |
Not clear |
| Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino, José M Fernández-Fernández, Marina Trivisano, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zann. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 21. issue 3. 2017-12-21. PMID:28007337. |
mutations in the cacna1a gene, encoding the pore-forming cav2.1 (p/q-type) channel α1a subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (hm) and episodic or progressive adult-onset ataxia (ea2, sca6). |
2017-12-21 |
2023-08-13 |
Not clear |
| Amal Al Teneiji, Komudi Siriwardena, Kristen George, Seema Mital, Saadet Mercimek-Mahmutogl. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. Pediatric neurology. vol 62. 2017-12-18. PMID:27426421. |
progressive cerebellar atrophy and a novel homozygous pathogenic dnajc19 variant as a cause of dilated cardiomyopathy ataxia syndrome. |
2017-12-18 |
2023-08-13 |
Not clear |
| Myung Eun Oh, Pablo Hernáiz Driever, Rajiv K Khajuria, Stefan Mark Rueckriegel, Elisabeth Koustenis, Harald Bruhn, Ulrich-Wilhelm Thomal. DTI fiber tractography of cerebro-cerebellar pathways and clinical evaluation of ataxia in childhood posterior fossa tumor survivors. Journal of neuro-oncology. vol 131. issue 2. 2017-12-13. PMID:27785688. |
we examined the relationship between long-term ataxia as well as fine motor function and alteration of differential cerebellar efferent and afferent pathways using diffusion tensor imaging (dti) and tractography. |
2017-12-13 |
2023-08-13 |
Not clear |