Artículo Destacado en trastornos del movimiento

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaks

Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713.

A case of very rapid progressive ataxia in rehabilitation setting.

Gialanella B, Prometti P, Ferlucci C, Bertolinelli M.

Aging Clin Exp Res. 2012 Apr;24(2):197-9.

Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor.

Shneyder N, Lyons MK, Driver-Dunckley E, Evidente VG.

Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-44-309-2. doi: 10.7916/D8BP01H5.

Estrogen prevents oxidative damage to the mitochondria in Friedreich's ataxia skin fibroblasts.

Richardson TE, Yu AE, Wen Y, Yang SH, Simpkins JW.

PLoS One. 2012;7(4):e34600. doi: 10.1371/journal.pone.0034600.

Presentation of opsoclonus myoclonus ataxia syndrome with glutamic acid decarboxylase antibodies.

Bhandari HS.

BMJ Case Rep. 2012 Aug 8;2012. pii: bcr2012006339. doi: 10.1136/bcr-2012-006339. Review.

Rapidly progressive cognitive impairment, ataxia, and myoclonus: an unusual presentation of a dural arteriovenous fistula.

Geraldes R, Albuquerque L, Ferro JM, Sousa R, Sequeira P, Campos J.

J Stroke Cerebrovasc Dis. 2012 Oct;21(7):619.e3-5. doi: 10.1016/j.jstrokecerebrovasdis.2011.01.002.

Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1.

Guergueltcheva V, Azmanov DN, Angelicheva D, Smith KR, Chamova T, Florez L, Bynevelt M, Nguyen T, Cherninkova S, Bojinova V, Kaprelyan A, Angelova L, Morar B, Chandler D, Kaneva R, Bahlo M, Tournev I,

Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019.

Cardiomyopathy in Friedreich ataxia: exemplifying the challenges faced by cardiologists in the management of rare diseases.

Jensen MK, Bundgaard H.

Circulation. 2012 Apr 3;125(13):1591-3. doi: 10.1161/CIRCULATIONAHA.112.095364. No abstract available.

Neurodegeneration in friedreich's ataxia is associated with a mixed activation pattern of the brain. A fMRI study.

Ginestroni A, Diciotti S, Cecchi P, Pesaresi I, Tessa C, Giannelli M, Della Nave R, Salvatore E, Salvi F, Dotti MT, Piacentini S, Soricelli A, Cosottini M, De Stefano N, Mascalchi M.

Hum Brain Mapp. 2012 Aug;33(8):1780-91. doi: 10.1002/hbm.21319.

A review of Friedreich ataxia clinical trial results.

Perlman SL.

J Child Neurol. 2012 Sep;27(9):1217-22. doi: 10.1177/0883073812453872. Review.

[Anti-GAD antibodies in paraneoplastic cerebellar ataxia associated with limbic encephalitis and autonomic dysfunction].

Carra-Dalliere C, Thouvenot E, Bonafé A, Ducray F, Touchon J, Charif M.

Rev Neurol (Paris). 2012 Apr;168(4):363-6. doi: 10.1016/j.neurol.2011.07.018. French.

Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.

McGurk L, Bonini NM.

Hum Mol Genet. 2012 Jan 1;21(1):76-84. doi: 10.1093/hmg/ddr439.

Is Friedreich ataxia an epigenetic disorder?

Kumari D, Usdin K.

Clin Epigenetics. 2012 Jan 30;4(1):2. doi: 10.1186/1868-7083-4-2.

New findings in the ataxia of Charlevoix-Saguenay.

Gazulla J, Benavente I, Vela AC, Marín MA, Pablo LE, Tessa A, Barrena MR, Santorelli FM, Nesti C, Modrego P, Tintoré M, Berciano J.

J Neurol. 2012 May;259(5):869-78. doi: 10.1007/s00415-011-6269-5.

Rationale for the development of 2-aminobenzamide histone deacetylase inhibitors as therapeutics for Friedreich ataxia.

Soragni E, Xu C, Plasterer HL, Jacques V, Rusche JR, Gottesfeld JM.

J Child Neurol. 2012 Sep;27(9):1164-73. doi: 10.1177/0883073812448533. Review.