Artículos por temáticas

Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.

Lee J, Scanga HL, Dansingani KK, Taubenslag KJ, Zlotcavitch L, Chauhan BK, Sylvester CL, Morton DH, Nischal KK.

Ophthalmic Genet. 2018 Dec;39(6):735-740. doi: 10.1080/13816810.2018.1547913. Epub 2018 Nov 16.

Immune Mediated Cerebellar Ataxia: An Unknown Manifestation of Graft-versus-Host Disease.

Shargian-Alon L, Raanani P, Rozovski U, Siegal T, Yust-Katz S, Yeshurun M.

Acta Haematol. 2018 Nov 15;141(1):19-22. doi: 10.1159/000494423. [Epub ahead of print]

iPSC Modeling of Presenilin1 Mutation in Alzheimer's Disease with Cerebellar Ataxia.

Li L, Roh JH, Chang EH, Lee Y, Lee S, Kim M, Koh W, Chang JW, Kim HJ, Nakanishi M, Barker RA, Na DL, Song J.

Exp Neurobiol. 2018 Oct;27(5):350-364. doi: 10.5607/en.2018.27.5.350. Epub 2018 Oct 31.

Aberrant IP(3) receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29.

Ando H, Hirose M, Mikoshiba K.

Proc Natl Acad Sci U S A. 2018 Nov 27;115(48):12259-12264. doi: 10.1073/pnas.1811129115. Epub 2018 Nov 14.

Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.

Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P.

Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018.

Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.

Bakhtiar S, Woelke S, Huenecke S, Kieslich M, Taylor AM, Schubert R, Zielen S, Bader P.

Front Immunol. 2018 Oct 29;9:2495. doi: 10.3389/fimmu.2018.02495. eCollection 2018.

Clinical Reasoning: A 35-year-old woman with diplopia, ataxia, and altered mental status.

Bauer Z, Eum KS, Ji J, Bunin J, Sherratt J.

Neurology. 2018 Nov 13;91(20):e1942-e1946. doi: 10.1212/WNL.0000000000006499. No abstract available.

Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations.

Ramos A, Planchat M, Vieira Melo AR, Raposo M, Shamim U, Suroliya V, Srivastava AK, Faruq M, Morino H, Ohsawa R, Kawakami H, Jardim LB, Saraiva-Pereira ML, Vasconcelos J, Santos C, Lima M.

Eur J Neurol. 2018 Nov 10. doi: 10.1111/ene.13860. [Epub ahead of print]

A simple saccadic reading test to assess ocular motor function in cerebellar ataxia.

Oh AJ, Chen T, Shariati MA, Jehangir N, Hwang TN, Liao YJ.

PLoS One. 2018 Nov 7;13(11):e0203924. doi: 10.1371/journal.pone.0203924. eCollection 2018.

Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.

Ye F, Chai W, Yang M, Xie M, Yang L.

Mol Clin Oncol. 2018 Nov;9(5):493-498. doi: 10.3892/mco.2018.1721. Epub 2018 Sep 17.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M,

Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25.

Ibuprofen prevents progression of ataxia telangiectasia symptoms in ATM-deficient mice.

Hui CW, Song X, Ma F, Shen X, Herrup K.

J Neuroinflammation. 2018 Nov 6;15(1):308. doi: 10.1186/s12974-018-1338-7.

Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.

Leńska-Mieciek M, Charzewska A, Królicki L, Hoffman-Zacharska D, Chen ZS, Lau KF, Chan HYE, Gambin T, Fiszer U.

Mov Disord. 2018 Nov 6. doi: 10.1002/mds.27536. [Epub ahead of print] No abstract available.

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E,

Neurobiol Dis. 2018 Oct 30;124:14-28. doi: 10.1016/j.nbd.2018.10.018. [Epub ahead of print]

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisc

Am J Hum Genet. 2018 Nov 1;103(5):826. doi: 10.1016/j.ajhg.2018.10.002. No abstract available.