Artículos por temáticas

Distinguishing ataxia from developmental coordination disorder

Baxter P.

Dev Med Child Neurol. 2020 Jan;62(1):11. doi: 10.1111/dmcn.14376. Epub 2019 Oct 17.

Case 32-2019: A 70-Year-Old Woman with Rapidly Progressive Ataxia.

Chwalisz BK, Buchbinder BR, Schmahmann JD, Samore WR.

N Engl J Med. 2019 Oct 17;381(16):1569-1578. doi: 10.1056/NEJMcpc1909624. No abstract available.

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia

Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.

J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.

Cerebellar ataxia and nystagmus with GAD antibodies in a woman from the West Indies : a video demonstration.

Ramcharan K, Reyes AJ, Abdool K, Raamkaransingh N.

BMJ Case Rep. 2019 Oct 14;12(10). pii: e231566. doi: 10.1136/bcr-2019-231566. No abstract available.

Ataxia as the main manifestation of tumor-like primary angiitis of the central nervous system: a case report and literature review.

Huang YJ, Zhang L, Mao Y, Nan GX.

BMC Med Imaging. 2019 Oct 15;19(1):79. doi: 10.1186/s12880-019-0382-9.

ATP8A2-related disorders as recessive cerebellar ataxia

Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M.

J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14.

Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.

Maciejczyk M, Heropolitanska-Pliszka E, Pietrucha B, Sawicka-Powierza J, Bernatowska E, Wolska-Kusnierz B, Pac M, Car H, Zalewska A, Mikoluc B.

Front Immunol. 2019 Sep 27;10:2322. doi: 10.3389/fimmu.2019.02322. eCollection 2019.

Induced pluripotent stem cells-derived neurons from patients with Friedreich ataxia exhibit differential sensitivity to resveratrol and nicotinamide.

Georges P, Boza-Moran MG, Gide J, Pêche GA, Forêt B, Bayot A, Rustin P, Peschanski M, Martinat C, Aubry L.

Sci Rep. 2019 Oct 10;9(1):14568. doi: 10.1038/s41598-019-49870-y.

Clinical Reasoning: A 55-year-old woman presenting with ataxia and numbness 1 year after ileum resection.

Cassano V, Spagni G, Iorio R.

Neurology. 2019 Oct 8;93(15):675-679. doi: 10.1212/WNL.0000000000008253. No abstract available.

Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease

Mergener R, Furtado GV, de Mattos EP, Leotti VB, Jardim LB, Saraiva-Pereira ML.

Neuromolecular Med. 2020 Mar;22(1):133-138. doi: 10.1007/s12017-019-08572-4. Epub 2019 Oct 5.

SINEUP non-coding RNAs rescue defective frataxin expression and activity in a cellular model of Friedreich's Ataxia.

Bon C, Luffarelli R, Russo R, Fortuni S, Pierattini B, Santulli C, Fimiani C, Persichetti F, Cotella D, Mallamaci A, Santoro C, Carninci P, Espinoza S, Testi R, Zucchelli S, Condò I, Gustincich S.

Nucleic Acids Res. 2019 Oct 4. pii: gkz798. doi: 10.1093/nar/gkz798. [Epub ahead of print]

Changes detected in swallowing function in Friedreich ataxia over 12 months.

Keage M, Delatycki MB, Dyer J, Corben LA, Vogel AP.

Neuromuscul Disord. 2019 Oct;29(10):786-793. doi: 10.1016/j.nmd.2019.08.013. Epub 2019 Sep 6.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G.

Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1.

Health-related quality of life and depressive symptoms in Friedreich ataxia

Pérez-Flores J, Hernández-Torres A, Montón F, Nieto A.

Qual Life Res. 2020 Feb;29(2):413-420. doi: 10.1007/s11136-019-02311-9. Epub 2019 Sep 28.

The Working Life of People with Degenerative Cerebellar Ataxia.

Ranavolo A, Serrao M, Varrecchia T, Casali C, Filla A, Roca A, Silvetti A, Marcotulli C, Rondinone BM, Iavicoli S, Draicchio F.

Cerebellum. 2019 Oct;18(5):910-921. doi: 10.1007/s12311-019-01065-x.