Artículos por temáticas

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Zimmern V, Riant F, Roze E, Ranza E, Lehmann-Horn F, Bellescize J, Ville D, Lesca G, Korff CM.

Neuropediatrics. 2019 Jun 21. doi: 10.1055/s-0039-1688410. [Epub ahead of print]

Episodic ataxia in CASPR2 autoimmunity.

López Chiriboga AS, Pittock S.

Neurol Neuroimmunol Neuroinflamm. 2018 Dec 24;6(2):e536. doi: 10.1212/NXI.0000000000000536. eCollection 2019 Mar. No abstract available.

Improvement of ataxia in a patient with cerebellar infarction by recovery of injured cortico-ponto-cerebellar tract and dentato-rubro-thalamic tract: a diffusion tensor tractography study.

Jang SH, Kwon HG.

Neural Regen Res. 2019 Aug;14(8):1470-1472. doi: 10.4103/1673-5374.253533. No abstract available.

Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.

Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilm

Ann Clin Transl Neurol. 2018 Nov 10;6(1):15-26. doi: 10.1002/acn3.660. eCollection 2019 Jan.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, E

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

Predictive equations for muscle mass in patients with spinocerebellar ataxia.

Macedo DS, Leite CMBA, Frehner C, Taconeli C, Teive HAG, Schieferdecker MEM.

Nutr Hosp. 2019 Mar 6. doi: 10.20960/nh.2058. [Epub ahead of print]

Acute Ataxia in Children.

Overby P, Kapklein M, Jacobson RI.

Pediatr Rev. 2019 Jul;40(7):332-343. doi: 10.1542/pir.2017-0223. No abstract available.

Patient reported outcomes in Friedreich's Ataxia after withdrawal from Idebenone.

Cook A, Boesch S, Heck S, Brunt E, Klockgether T, Schöls L, Schulz A, Giunti P.

Acta Neurol Scand. 2019 Mar 18. doi: 10.1111/ane.13088. [Epub ahead of print]

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, M

Neurology. 2019 May 8. pii: 10.1212/WNL.0000000000007606. doi: 10.1212/WNL.0000000000007606. [Epub ahead of print]

Spinocerebellar ataxia type 8: First families detected in Spain.

Arias M, Mir P, Fernández-Matarrubia M, Arpa J, García-Ramos R, Blanco-Arias P, Quintans B, Sobrido MJ.

Neurologia. 2019 May 15. pii: S0213-4853(19)30050-7. doi: 10.1016/j.nrl.2019.01.004. [Epub ahead of print] English, Spanish.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.

Barcia G, Assouline Z, Pennisi A, Gitiaux C, Schiff M, Boddaert N, Munnich A, Bonnefont JP, Rötig A.

Mol Genet Metab Rep. 2019 Nov 6;21:100528. doi: 10.1016/j.ymgmr.2019.100528. eCollection 2019 Dec. No abstract available.

Transcranial direct current stimulation in the treatment of cerebellar ataxia: A two-phase, double-blind, auto-matched, pilot study.

Barretto TL, Bandeira ID, Jagersbacher JG, Barretto BL, de Oliveira E Torres ÂFS, Peña N, Miranda JGV, Lucena R.

Clin Neurol Neurosurg. 2019 May 14;182:123-129. doi: 10.1016/j.clineuro.2019.05.009. [Epub ahead of print]

Exercise and Physical Therapy Interventions for Children with Ataxia: A Systematic Review.

Hartley H, Cassidy E, Bunn L, Kumar R, Pizer B, Lane S, Carter B.

Cerebellum. 2019 Oct;18(5):951-968. doi: 10.1007/s12311-019-01063-z. Review.

Ataxia.

Kuo SH.

Continuum (Minneap Minn). 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753.

A sleep modulated Channelopathy: a novel CACNA1A pathogenic variant identified in episodic Ataxia type 2 and a potential link to sleep alleviated migraine.

Ahuja AS, Rozen TD, Atwal PS.

BMC Neurol. 2019 Oct 22;19(1):246. doi: 10.1186/s12883-019-1491-3.