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Cerebral ataxia

MedGen UID:
542949
•Concept ID:
C0270721
•
Disease or Syndrome
SNOMED CT: Cerebral ataxia (28634005)

Professional guidelines

PubMed

Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children: An International Perspective.
Rossor T, Yeh EA, Khakoo Y, Angelini P, Hemingway C, Irani SR, Schleiermacher G, Santosh P, Lotze T, Dale RC, Deiva K, Hero B, Klein A, de Alarcon P, Gorman MP, Mitchell WG, Lim M; OMS Study Group
Neurol Neuroimmunol Neuroinflamm 2022 May;9(3) Epub 2022 Mar 8 doi: 10.1212/NXI.0000000000001153. PMID: 35260471Free PMC Article
Acute cerebellar ataxia: differential diagnosis and clinical approach.
Pedroso JL, Vale TC, Braga-Neto P, Dutra LA, França MC Jr, Teive HAG, Barsottini OGP
Arq Neuropsiquiatr 2019 Mar;77(3):184-193. doi: 10.1590/0004-282X20190020. PMID: 30970132
The Differential Diagnosis and Treatment of Atypical Parkinsonism.
Levin J, Kurz A, Arzberger T, Giese A, Höglinger GU
Dtsch Arztebl Int 2016 Feb 5;113(5):61-9. doi: 10.3238/arztebl.2016.0061. PMID: 26900156Free PMC Article

Recent clinical studies

Etiology

A hybrid unsupervised-Deep learning tandem for electrooculography time series analysis.
Stoean R, Stoean C, Becerra-García R, García-Bermúdez R, Atencia M, García-Lagos F, Velázquez-Pérez L, Joya G
PLoS One 2020;15(7):e0236401. Epub 2020 Jul 21 doi: 10.1371/journal.pone.0236401. PMID: 32692779Free PMC Article
Cryo-EM structures of the ionotropic glutamate receptor GluD1 reveal a non-swapped architecture.
Burada AP, Vinnakota R, Kumar J
Nat Struct Mol Biol 2020 Jan;27(1):84-91. Epub 2020 Jan 10 doi: 10.1038/s41594-019-0359-y. PMID: 31925409Free PMC Article
Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses.
Mortellaro C, Bello L, Pucci A, Lucchina AG, Migliario M
J Craniofac Surg 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. PMID: 20856047
Lack of association between anti-phospholipid antibodies (APLA) and Attention Deficit/Hyperactivity Disorder (ADHD) in children.
Bujanover S, Levy Y, Katz M, Leitner Y, Vinograd I, Shoenfeld Y
Clin Dev Immunol 2003 Jun-Dec;10(2-4):105-9. doi: 10.1080/10446670310001626553. PMID: 14768940Free PMC Article

Diagnosis

The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Singh S, Hämäläinen RH
Cells 2024 Jan 16;13(2) doi: 10.3390/cells13020170. PMID: 38247861Free PMC Article
Emerging role of non-coding RNA in health and disease.
Bhatti GK, Khullar N, Sidhu IS, Navik US, Reddy AP, Reddy PH, Bhatti JS
Metab Brain Dis 2021 Aug;36(6):1119-1134. Epub 2021 Apr 21 doi: 10.1007/s11011-021-00739-y. PMID: 33881724Free PMC Article
A hybrid unsupervised-Deep learning tandem for electrooculography time series analysis.
Stoean R, Stoean C, Becerra-García R, García-Bermúdez R, Atencia M, García-Lagos F, Velázquez-Pérez L, Joya G
PLoS One 2020;15(7):e0236401. Epub 2020 Jul 21 doi: 10.1371/journal.pone.0236401. PMID: 32692779Free PMC Article
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Kalvala A, Gao L, Aguila B, Dotts K, Rahman M, Nana-Sinkam SP, Zhou X, Wang QE, Amann J, Otterson GA, Villalona-Calero MA, Duan W
Mol Cancer 2016 Jun 13;15(1):47. doi: 10.1186/s12943-016-0527-1. PMID: 27296891Free PMC Article
Late-onset spinal form xanthomatosis without brain lesion: a case report.
Yanagihashi M, Kano O, Terashima T, Kawase Y, Hanashiro S, Sawada M, Ishikawa Y, Shiraga N, Ikeda K, Iwasaki Y
BMC Neurol 2016 Feb 9;16:21. doi: 10.1186/s12883-016-0542-2. PMID: 26861945Free PMC Article

Prognosis

Anti-Tr/DNER antibody-associated cerebellar ataxia: three rare cases report and literature review.
Cai Y, Liu J, Ren H, Shi F, Che J, Geng Q, Tan Y, Guan H, Di W
Neurol Sci 2023 Jan;44(1):397-403. Epub 2022 Sep 12 doi: 10.1007/s10072-022-06389-x. PMID: 36094774
Neurochondrin Antibody Serum Positivity in Three Cases of Autoimmune Cerebellar Ataxia.
Weihua Z, Haitao R, Fang F, Xunzhe Y, Jing W, Hongzhi G
Cerebellum 2019 Dec;18(6):1137-1142. doi: 10.1007/s12311-019-01048-y. PMID: 31179511
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Kalvala A, Gao L, Aguila B, Dotts K, Rahman M, Nana-Sinkam SP, Zhou X, Wang QE, Amann J, Otterson GA, Villalona-Calero MA, Duan W
Mol Cancer 2016 Jun 13;15(1):47. doi: 10.1186/s12943-016-0527-1. PMID: 27296891Free PMC Article

Clinical prediction guides

The Effect of Organophosphate Exposure on Neuronal Cell Coenzyme Q(10) Status.
Turton N, Heaton RA, Ismail F, Roberts S, Nelder S, Phillips S, Hargreaves IP
Neurochem Res 2021 Jan;46(1):131-139. Epub 2020 Apr 18 doi: 10.1007/s11064-020-03033-y. PMID: 32306167Free PMC Article
Rad51C-ATXN7 fusion gene expression in colorectal tumors.
Kalvala A, Gao L, Aguila B, Dotts K, Rahman M, Nana-Sinkam SP, Zhou X, Wang QE, Amann J, Otterson GA, Villalona-Calero MA, Duan W
Mol Cancer 2016 Jun 13;15(1):47. doi: 10.1186/s12943-016-0527-1. PMID: 27296891Free PMC Article
Sustained miRNA-mediated knockdown of mutant AAT with simultaneous augmentation of wild-type AAT has minimal effect on global liver miRNA profiles.
Mueller C, Tang Q, Gruntman A, Blomenkamp K, Teckman J, Song L, Zamore PD, Flotte TR
Mol Ther 2012 Mar;20(3):590-600. Epub 2012 Jan 17 doi: 10.1038/mt.2011.292. PMID: 22252449Free PMC Article
Idiopathic central diabetes insipidus followed by progressive spastic cerebral ataxia. Report of four cases.
Birnbaum DC, Shields D, Lippe B, Perlman S, Phillipart M
Arch Neurol 1989 Sep;46(9):1001-3. doi: 10.1001/archneur.1989.00520450071022. PMID: 2775003

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