All Relations between Ataxia and cerebellum

Publication Sentence Publish Date Extraction Date Species
Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, Elodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Heron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie-Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Burgle. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in medicine : official journal of the American College of Medical Genetics. vol 21. issue 3. 2019-07-15. PMID:29997391. to investigate the genetic basis of congenital ataxias (cas), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new ca genes. 2019-07-15 2023-08-13 Not clear
Jan Cendelin, Hiroshi Mitoma, Mario Mant. Neurotransplantation Therapy and Cerebellar Reserve. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:28799490. neurotransplantation has been recently the focus of interest as a promising therapy to substitute lost cerebellar neurons and improve cerebellar ataxias. 2019-07-11 2023-08-13 Not clear
Shinji Kakei, Takahiro Ishikawa, Jongho Lee, Takeru Honda, Donna S Hoffma. Physiological and Morphological Principles Underpinning Recruitment of the Cerebellar Reserve. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29546837. in order to optimize outcomes of novel therapies for cerebellar ataxias (cas), it is desirable to start these therapies while declined functions are restorable: i.e. 2019-07-11 2023-08-13 Not clear
Chiara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori, Roberta Ferrucc. Non-invasive Cerebellar Stimulation in Cerebellar Disorders. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29623859. 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 currently exist. 2019-07-11 2023-08-13 human
Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashim. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain : a journal of neurology. vol 141. issue 6. 2019-07-08. PMID:29718187. we also found that all four patients had characteristic neurological features of peripheral neuropathy and ataxia with cerebellar atrophy, and some patients showed leukoencephalopathy or spinal cord atrophy on mri scans. 2019-07-08 2023-08-13 drosophila_melanogaster
Maria T D Gama, Camila C Piccinin, Thiago J R Rezende, Patrick A Dion, Guy A Rouleau, Marcondes C França Junior, Orlando G P Barsottini, José Luiz Pedros. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia. Journal of the neurological sciences. vol 390. 2019-07-01. PMID:29801895. the gene syne1 is highly expressed in the cerebellum and its dysfunction is related to an autosomal recessive ataxia (syne1-ataxia). 2019-07-01 2023-08-13 Not clear
Chloé Angelini, Julien Van Gils, Antoine Bigourdan, Pierre-Simon Jouk, Didier Lacombe, Patrice Menegon, Sébastien Moutton, Florence Riant, Guilhem Sole, Elisabeth Tournier-Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goize. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. European journal of medical genetics. vol 62. issue 6. 2019-06-21. PMID:30142438. the index case had early-onset epileptic encephalopathy with progressive cerebellar atrophy, although his mother and his great-grandmother suffered from paroxystic episodic ataxia. 2019-06-21 2023-08-13 Not clear
Cecile Lebon, Francine Behar-Cohen, Alicia Torrigli. Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. Neuroscience. vol 400. 2019-06-21. PMID:30625334. spino-cerebellar ataxia type 7 (sca7) is a polyglutamine (polyq) disorder characterized by neurodegeneration of the brain, cerebellum, and retina caused by a polyglutamine expansion in ataxin7. 2019-06-21 2023-08-13 mouse
G E Rudenskaya, E I Surkova, F A Konovalo. [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 118. issue 3. 2019-06-10. PMID:29652299. he presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on mri and moderate hypercholesterolemia. 2019-06-10 2023-08-13 Not clear
Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. the inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders. 2019-06-07 2023-08-13 Not clear
Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. pathogenic expansions of cytosine-adenine-guanine (cag) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias, while gaa expansion in the first introns of frataxin gene is the commonest cause of autosomal recessive cerebellar ataxias. 2019-06-07 2023-08-13 Not clear
Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. in this review, we discuss the mechanisms in which dna repair pathways, epigenetics and other genetic factors may act as modifiers in cerebellar ataxias due to trinucleotide repeat expansions. 2019-06-07 2023-08-13 Not clear
Maggie M K Wong, Stephanie D Hoekstra, Jane Vowles, Lauren M Watson, Geraint Fuller, Andrea H Németh, Sally A Cowley, Olaf Ansorge, Kevin Talbot, Esther B E Becke. Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation. Acta neuropathologica communications. vol 6. issue 1. 2019-06-06. PMID:30249303. spinocerebellar ataxia type 14 (sca14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. 2019-06-06 2023-08-13 human
C Mancini, E Giorgio, A Rubegni, L Pradotto, S Bagnoli, E Rubino, P Prontera, S Cavalieri, E Di Gregorio, M Ferrero, E Pozzi, E Riberi, P Ferrero, P Nigro, A Mauro, M Zibetti, A Tessa, M Barghigiani, A Antenora, F Sirchia, S Piacentini, G Silvestri, G De Michele, A Filla, L Orsi, F M Santorelli, A Brusc. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. European journal of neurology. vol 26. issue 1. 2019-06-03. PMID:30098094. hereditary ataxias are heterogeneous groups of neurodegenerative disorders, characterized by cerebellar syndromes associated with dysarthria, oculomotor and corticospinal signs, neuropathy and cognitive impairment. 2019-06-03 2023-08-13 Not clear
Miwa Higashi, Kokoro Ozaki, Takaaki Hattori, Takashi Ishii, Kazumasa Soga, Nozomu Sato, Makoto Tomita, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokot. A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. Journal of the neurological sciences. vol 387. 2019-05-28. PMID:29571861. cerebellar ataxias (cas) are heterogeneous conditions often require differential diagnosis. 2019-05-28 2023-08-13 Not clear
Miwa Higashi, Kokoro Ozaki, Takaaki Hattori, Takashi Ishii, Kazumasa Soga, Nozomu Sato, Makoto Tomita, Hidehiro Mizusawa, Kinya Ishikawa, Takanori Yokot. A diagnostic decision tree for adult cerebellar ataxia based on pontine magnetic resonance imaging. Journal of the neurological sciences. vol 387. 2019-05-28. PMID:29571861. two-hundred and two consecutive ataxia patients were clinically classified into 4 groups: (1) spinocerebellar ataxia (sca) with brainstem involvement (sca-bsi), (2) pure cerebellar sca, (3) cerebellar dominant multiple system atrophy (msa-c), and (4) other ca. 2019-05-28 2023-08-13 Not clear
Mario Mascalchi, Alessandra Vell. Neuroimaging Applications in Chronic Ataxias. International review of neurobiology. vol 143. 2019-05-21. PMID:30473193. mri has a predominant diagnostic role in the single patient, based on the visual detection of three patterns of atrophy, namely, spinal atrophy, cortical cerebellar atrophy and olivopontocerebellar atrophy, which correlate with the aetiologies of inherited or sporadic ataxia. 2019-05-21 2023-08-13 Not clear
Mario Mascalchi, Alessandra Vell. Neuroimaging Applications in Chronic Ataxias. International review of neurobiology. vol 143. 2019-05-21. PMID:30473193. in fact spinal atrophy is observed in friedreich ataxia, cortical cerebellar atrophy in ataxia telangectasia, gluten ataxia and sporadic adult onset ataxia and olivopontocerebellar atrophy in multiple system atrophy cerebellar type. 2019-05-21 2023-08-13 Not clear
Mario Mascalchi, Alessandra Vell. Neuroimaging Applications in Chronic Ataxias. International review of neurobiology. vol 143. 2019-05-21. PMID:30473193. semiquantitative or quantitative mri, spect and pet data describing structural, microstructural and functional changes of the cerebellum, brainstem, and spinal cord have been widely applied to investigate physiopathological changes in patients with chronic ataxias. 2019-05-21 2023-08-13 Not clear
Polina A Egorova, Alexandra V Gavrilova, Ilya B Bezprozvann. In Vivo Analysis of the Climbing Fiber-Purkinje Cell Circuit in SCA2-58Q Transgenic Mouse Model. Cerebellum (London, England). vol 17. issue 5. 2019-05-20. PMID:29876801. cerebellar purkinje cells (pcs) and cerebellar pathways are primarily affected in many autosomal dominant cerebellar ataxias. 2019-05-20 2023-08-13 mouse