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Intermittent ataxia

MedGen UID:
780950
•Concept ID:
C0741270
•
Sign or Symptom
SNOMED CT: Intermittent ataxia (437901000124108)

Professional guidelines

PubMed

ACR Appropriateness Criteria® Ataxia-Child.
Expert Panel on Pediatric Imaging, Radhakrishnan R, Shea LAG, Pruthi S, Silvera VM, Bosemani T, Desai NK, Gilbert DL, Glenn OA, Guimaraes CV, Ho ML, Lam HFS, Maheshwari M, Mirsky DM, Nadel HR, Partap S, Schooler GR, Udayasankar UK, Whitehead MT, Wright JN, Rigsby CK
J Am Coll Radiol 2022 Nov;19(11S):S240-S255. doi: 10.1016/j.jacr.2022.09.010. PMID: 36436955
Benefits and harms of pregabalin in the management of neuropathic pain: a rapid review and meta-analysis of randomised clinical trials.
Onakpoya IJ, Thomas ET, Lee JJ, Goldacre B, Heneghan CJ
BMJ Open 2019 Jan 21;9(1):e023600. doi: 10.1136/bmjopen-2018-023600. PMID: 30670513Free PMC Article
Extracorporeal Treatment in Phenytoin Poisoning: Systematic Review and Recommendations from the EXTRIP (Extracorporeal Treatments in Poisoning) Workgroup.
Anseeuw K, Mowry JB, Burdmann EA, Ghannoum M, Hoffman RS, Gosselin S, Lavergne V, Nolin TD; EXTRIP Workgroup
Am J Kidney Dis 2016 Feb;67(2):187-97. Epub 2015 Nov 11 doi: 10.1053/j.ajkd.2015.08.031. PMID: 26578149

Recent clinical studies

Etiology

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY
CNS Neurosci Ther 2019 Jan;25(1):21-29. Epub 2018 May 13 doi: 10.1111/cns.12972. PMID: 29756269Free PMC Article
Recurrent Ataxia in Children and Adolescents.
Salman MS, Klassen SF, Johnston JL
Can J Neurol Sci 2017 Jul;44(4):375-383. Epub 2017 Jan 3 doi: 10.1017/cjn.2016.324. PMID: 28043238
Paroxysmal movement disorders and episodic ataxias.
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292
Myxothiazol resistance in human mitochondria.
Parker WD Jr, Frerman F, Haas R, Parks JK
Biochim Biophys Acta 1988 Oct 26;936(1):133-8. doi: 10.1016/0005-2728(88)90260-5. PMID: 2846049
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW
Ann Neurol 1980 Nov;8(5):544-7. doi: 10.1002/ana.410080514. PMID: 7436398

Diagnosis

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY
CNS Neurosci Ther 2019 Jan;25(1):21-29. Epub 2018 May 13 doi: 10.1111/cns.12972. PMID: 29756269Free PMC Article
Recurrent Ataxia in Children and Adolescents.
Salman MS, Klassen SF, Johnston JL
Can J Neurol Sci 2017 Jul;44(4):375-383. Epub 2017 Jan 3 doi: 10.1017/cjn.2016.324. PMID: 28043238
GLUT1 deficiency syndrome 2013: current state of the art.
De Giorgis V, Veggiotti P
Seizure 2013 Dec;22(10):803-11. Epub 2013 Jul 26 doi: 10.1016/j.seizure.2013.07.003. PMID: 23890838
Disorders of pyruvate metabolism.
De Meirleir L
Handb Clin Neurol 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4. PMID: 23622387
Paroxysmal movement disorders and episodic ataxias.
Fernández-Alvarez E, Perez-Dueñas B
Handb Clin Neurol 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. PMID: 23622292

Therapy

A case of D-lactic acid encephalopathy associated with use of probiotics.
Munakata S, Arakawa C, Kohira R, Fujita Y, Fuchigami T, Mugishima H
Brain Dev 2010 Sep;32(8):691-4. Epub 2009 Nov 14 doi: 10.1016/j.braindev.2009.09.024. PMID: 19917522
A case of intermittent ataxia associated with migraine headaches.
Seet RC, Lim EC
CMAJ 2007 Sep 11;177(6):565-7. doi: 10.1503/cmaj.070001. PMID: 17846436Free PMC Article
Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide.
Livingstone IR, Gardner-Medwin D, Pennington RJ
J Neurol Sci 1984 Apr;64(1):89-97. doi: 10.1016/0022-510x(84)90059-5. PMID: 6539810
Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.
Sander JE, Malamud N, Cowan MJ, Packman S, Amman AJ, Wara DW
Ann Neurol 1980 Nov;8(5):544-7. doi: 10.1002/ana.410080514. PMID: 7436398
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.
Cowan MJ, Wara DW, Packman S, Ammann AJ, Yoshino M, Sweetman L, Nyhan W
Lancet 1979 Jul 21;2(8134):115-8. doi: 10.1016/s0140-6736(79)90002-3. PMID: 88554

Prognosis

Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Dong HL, Ma Y, Li QF, Du YC, Yang L, Chen S, Wu ZY
CNS Neurosci Ther 2019 Jan;25(1):21-29. Epub 2018 May 13 doi: 10.1111/cns.12972. PMID: 29756269Free PMC Article
Vertebral artery dissection: an unusual cause of transient ataxia, vertigo, and sensorineural hearing loss.
Touil LL, Watson GJ, Small M
Ear Nose Throat J 2013 Dec;92(12):E20-2. PMID: 24366710
Allelic variations of glut-1 deficiency syndrome: the chinese experience.
Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X
Pediatr Neurol 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010. PMID: 22704013
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA
Neuropediatrics 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084. PMID: 18504677

Clinical prediction guides

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR
Genet Med 2023 Apr;25(4):100352. Epub 2022 Dec 5 doi: 10.1016/j.gim.2022.11.020. PMID: 36473599Free PMC Article
GLUT1 deficiency syndrome 2013: current state of the art.
De Giorgis V, Veggiotti P
Seizure 2013 Dec;22(10):803-11. Epub 2013 Jul 26 doi: 10.1016/j.seizure.2013.07.003. PMID: 23890838
Allelic variations of glut-1 deficiency syndrome: the chinese experience.
Liu Y, Bao X, Wang D, Fu N, Zhang X, Cao G, Song F, Wang S, Zhang Y, Qin J, Yang H, Engelstad K, De Vivo DC, Wu X
Pediatr Neurol 2012 Jul;47(1):30-4. doi: 10.1016/j.pediatrneurol.2012.04.010. PMID: 22704013
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA
Neuropediatrics 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084. PMID: 18504677

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