Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12.

O'Hearn EE, Hwang HS, Holmes SE, Rudnicki DD, Chung DW, Seixas AI, Cohen RL, Ross CA, Trojanowski JQ, Pletnikova O, Troncoso JC, Margolis RL.

Mov Disord. 2015 Nov;30(13):1813-24. doi: 10.1002/mds.26348.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW.

JAMA Neurol. 2015 Jan;72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.

SPG7 mutations are a common cause of undiagnosed ataxia.

[No authors listed]

Neurology. 2015 May 5;84(18):1911. doi: 10.1212/WNL.0000000000001628. No abstract available.

[Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].

Perez-Etchepare E, Rodríguez Chitiva HA, García Nieto V, Luis Yanes MI, Antón Hernández L.

An Pediatr (Barc). 2015 May;82(5):e245-6. doi: 10.1016/j.anpedi.2014.05.008. Spanish. No abstract available.

Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM.

Mohammadinejad P, Abolhassani H, Aghamohammadi A, Pourhamdi S, Ghosh S, Sadeghi B, Nasiri Kalmarzi R, Durandy A, Borkhardt A.

J Immunoassay Immunochem. 2015;36(1):16-26. doi: 10.1080/15321819.2014.891525.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098.

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

Giunti P, Mantuano E, Frontali M, Veneziano L.

Front Cell Neurosci. 2015 Feb 16;9:36. doi: 10.3389/fncel.2015.00036. Review.

[SCA6 presenting parkinsonism without ataxia--A case report].

Takeshima S, Takeda I, Kobatake K, Yamashita T, Abe K, Kuriyama M.

Rinsho Shinkeigaku. 2015;55(4):243-7. doi: 10.5692/clinicalneurol.55.243. Japanese.

Integration of modeling with experimental and clinical findings synthesizes and refines the central role of inositol 1,4,5-trisphosphate receptor 1 in spinocerebellar ataxia.

Brown SA, Loew LM.

Front Neurosci. 2015 Jan 21;8:453. doi: 10.3389/fnins.2014.00453. Review.

Opsoclonus-myoclonus-ataxia syndrome associated with dengue virus infection.

Tan AH, Linn K, Sam IC, Tan CT, Lim SY.

Parkinsonism Relat Disord. 2015 Feb;21(2):160-1. doi: 10.1016/j.parkreldis.2014.11.009. No abstract available.

Parkinsonism in spinocerebellar ataxia.

Park H, Kim HJ, Jeon BS.

Biomed Res Int. 2015;2015:125273. doi: 10.1155/2015/125273. Review.

The pathogenesis of cardiomyopathy in Friedreich ataxia.

Koeppen AH, Ramirez RL, Becker AB, Bjork ST, Levi S, Santambrogio P, Parsons PJ, Kruger PC, Yang KX, Feustel PJ, Mazurkiewicz JE.

PLoS One. 2015 Mar 4;10(3):e0116396. doi: 10.1371/journal.pone.0116396.

TPP1 deficiency: Rare cause of isolated childhood-onset progressive ataxia.

Dy ME, Sims KB, Friedman J.

Neurology. 2015 Oct 6;85(14):1259-61. doi: 10.1212/WNL.0000000000001876. No abstract available.

A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2.

Saccà F, Puorro G, Brunetti A, Capasso G, Cervo A, Cocozza S, de Leva M, Marsili A, Pane C, Quarantelli M, Russo CV, Trepiccione F, De Michele G, Filla A, Morra VB.

J Neurol. 2015 Jan;262(1):149-53. doi: 10.1007/s00415-014-7551-0.

Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.

Kim Y, Kim SH, Kim KH, Chae S, Kim C, Kim J, Shin HS, Lee MS, Kim D.

Hum Mol Genet. 2015 Dec 20;24(25):7196-206. doi: 10.1093/hmg/ddv417.