Artículos por temáticas

Allopregnanolone Treatment Improves Plasma Metabolomic Profile Associated with GABA Metabolism in Fragile X-Associated Tremor/Ataxia Syndrome: a Pilot Study.

Napoli E, Schneider A, Wang JY, Trivedi A, Carrillo NR, Tassone F, Rogawski M, Hagerman RJ, Giulivi C.

Mol Neurobiol. 2018 Sep 5. doi: 10.1007/s12035-018-1330-3. [Epub ahead of print]

Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2).

Zanatta A, Camargo CHF, Germiniani FMB, Raskin S, de Souza Crippa AC, Teive HAG.

Cerebellum. 2018 Sep 28. doi: 10.1007/s12311-018-0982-x. [Epub ahead of print]

Selective Forces Related to Spinocerebellar Ataxia Type 2.

Sena LS, Castilhos RM, Mattos EP, Furtado GV, Pedroso JL, Barsottini O, de Amorim MMP, Godeiro C, Pereira MLS, Jardim LB.

Cerebellum. 2018 Sep 15. doi: 10.1007/s12311-018-0977-7. [Epub ahead of print]

Addition of Digoxin Improves Cardiac Function in Children With the Dilated Cardiomyopathy With Ataxia Syndrome: A Mitochondrial Cardiomyopathy.

Greenway SC, Dallaire F, Hazari H, Patel D, Khan A.

Can J Cardiol. 2018 Aug;34(8):972-977. doi: 10.1016/j.cjca.2018.02.019. Epub 2018 Mar 1.

The cerebellar histiocytosis: Progressive ataxia is not always a genetic disease.

de Assis Franco I, Aragão MM, Braga-Neto P, Avelino MA, Pedroso JL, Marussi VHR, Freitas LF, Masruha MR, Barsottini OGP.

Neurology. 2018 Aug 21;91(8):357-359. doi: 10.1212/WNL.0000000000006036. Epub 2018 Jul 18. No abstract available.

PATRIOT: A phase I study to assess the tolerability, safety and biological effects of a specific ataxia telangiectasia and Rad3-related (ATR) inhibitor (AZD6738) as a single agent and in combination with palliative radiation therapy in patients with solid tumours.

Dillon MT, Boylan Z, Smith D, Guevara J, Mohammed K, Peckitt C, Saunders M, Banerji U, Clack G, Smith SA, Spicer JF, Forster MD, Harrington KJ.

Clin Transl Radiat Oncol. 2018 Jun 8;12:16-20. doi: 10.1016/j.ctro.2018.06.001. eCollection 2018 Aug.

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor R, Niyazov D, Caldecott KW.

Neurol Genet. 2018 Aug 1;4(4):e262. doi: 10.1212/NXG.0000000000000262. eCollection 2018 Aug.

An exploratory natural history of ataxia of Charlevoix-Saguenay: A 2-year follow-up.

Gagnon C, Lessard I, Lavoie C, Côté I, St-Gelais R, Mathieu J, Brais B.

Neurology. 2018 Aug 29. pii: 10.1212/WNL.0000000000006290. doi: 10.1212/WNL.0000000000006290. [Epub ahead of print]

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice.

McLoughlin HS, Moore LR, Chopra R, Komlo R, McKenzie M, Blumenstein KG, Zhao H, Kordasiewicz HB, Shakkottai VG, Paulson HL.

Ann Neurol. 2018 Jun 16. doi: 10.1002/ana.25264. [Epub ahead of print]

Derivation of an induced pluripotent stem cell line (MUSIi004-A) from dermal fibroblasts of a 48-year-old spinocerebellar ataxia type 3 patient.

Ritthaphai A, Wattanapanitch M, Pithukpakorn M, Heepchantree W, Soi-Ampornkul R, Mahaisavariya P, Triwongwaranat D, Pattanapanyasat K, Vatanashevanopakorn C.

Stem Cell Res. 2018 May 21;30:113-116. doi: 10.1016/j.scr.2018.05.012. [Epub ahead of print]

Adding a temporal dimension to the study of Friedreich's ataxia: the effect of frataxin overexpression in a human cell model.

Vannocci T, Notario Manzano R, Beccalli O, Bettegazzi B, Grohovaz F, Cinque G, de Riso A, Quaroni L, Codazzi F, Pastore A.

Dis Model Mech. 2018 May 24. pii: dmm.032706. doi: 10.1242/dmm.032706. [Epub ahead of print]

SNX14 mutations affect endoplasmic reticulum associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.

Bryant D, Liu Y, Datta S, Hariri H, Seda M, Anderson G, Peskett E, Demetriou C, Sousa S, Jenkins D, Clayton P, Bitner-Glindzicz M, Moore GE, Henne WM, Stanier P.

Hum Mol Genet. 2018 Apr 9. doi: 10.1093/hmg/ddy101. [Epub ahead of print]

Cerebellar transcranial magnetic stimulation facilitates excitability of spinal reflex, but does not affect cerebellar inhibition and facilitation in spinocerebellar ataxia.

Matsugi A, Kikuchi Y, Kaneko K, Seko Y, Odagaki M.

Neuroreport. 2018 Apr 13. doi: 10.1097/WNR.0000000000001036. [Epub ahead of print]

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Alsahli S, Alrifai MT, Al Tala S, Mutairi FA, Alfadhel M.

J Cent Nerv Syst Dis. 2018 Feb 28;10:1179573518759682. doi: 10.1177/1179573518759682. eCollection 2018.

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins C, Lohmann K, van de Warrenburg BP

Ann Neurol. 2018 Mar 31. doi: 10.1002/ana.25220. [Epub ahead of print]