Novel aberrant genetic and epigenetic events in Friedreich's ataxia.

Quesada MP, Jones J, Rodríguez-Lozano FJ, Moraleda JM, Martinez S.

Exp Cell Res. 2015 Jul 1;335(1):51-61. doi: 10.1016/j.yexcr.2015.04.013.

Neuromuscular electrical stimulation of the median nerve facilitates low motor cortex excitability in patients with spinocerebellar ataxia.

Chen CC, Chuang YF, Yang HC, Hsu MJ, Huang YZ, Chang YJ.

J Electromyogr Kinesiol. 2015 Feb;25(1):143-50. doi: 10.1016/j.jelekin.2014.10.009.

Spinocerebellar ataxia 36 (SCA36): «Costa da Morte ataxia»

Arias M, García-Murias M, Sobrido MJ.

Neurologia. 2015 Jan 13. pii: S0213-4853(14)00253-9. doi: 10.1016/j.nrl.2014.11.005. [Epub ahead of print] English, Spanish.

Erratum to: The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS.

Neurogenetics. 2015 Jul;16(3):243. doi: 10.1007/s10048-015-0447-z. No abstract available.

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Sultana S, Reichbauer J, Schüle R, Mochel F, Synofzik M, van der Spoel AC.

Biochem Biophys Res Commun. 2015 Sep 11;465(1):35-40. doi: 10.1016/j.bbrc.2015.07.112.

Rare frequency of downbeat positioning nystagmus in spinocerebellar ataxia type 31.

Yabe I, Matsushima M, Yoshida K, Ishikawa K, Shirai S, Takahashi I, Sasaki H.

J Neurol Sci. 2015 Mar 15;350(1-2):90-2. doi: 10.1016/j.jns.2014.12.042.

An understanding of spinocerebellar ataxia.

Ramachandra NB, Kusuma L.

Indian J Med Res. 2015 Feb;141(2):148-50. No abstract available.

Friedreich ataxia: failure of GABA-ergic and glycinergic synaptic transmission in the dentate nucleus.

Koeppen AH, Ramirez RL, Becker AB, Feustel PJ, Mazurkiewicz JE.

J Neuropathol Exp Neurol. 2015 Feb;74(2):166-76. doi: 10.1097/NEN.0000000000000160.

A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I.

Razafsky D, Hodzic D.

Neurobiol Dis. 2015 Jun;78:57-67. doi: 10.1016/j.nbd.2015.03.027.

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.

Ramani B, Harris GM, Huang R, Seki T, Murphy GG, Costa Mdo C, Fischer S, Saunders TL, Xia G, McEachin RC, Paulson HL.

Hum Mol Genet. 2015 Mar 1;24(5):1211-24. doi: 10.1093/hmg/ddu532.

Reply: Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Tezenas du Montcel S.

Brain. 2015 Dec;138(Pt 12):e399. doi: 10.1093/brain/awv207. No abstract available.

Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene.

Minnerop M, Bauer P.

JAMA Neurol. 2015 Feb;72(2):238-9. doi: 10.1001/jamaneurol.2014.3918. No abstract available.

Hypermetabolism of Olivary Nuclei in a Patient with Progressive Ataxia and Palatal Tremor.

Korpela J, Joutsa J, Rinne JO, Bergman J, Kaasinen V.

Tremor Other Hyperkinet Mov (N Y). 2015 Aug 31;5:342. doi: 10.7916/D8PV6JMT.

Ornidazole-induced ataxia in an Indian woman: A case report.

Gopinath KG, Wilson BP, Viggeswarpu S, Mathews PK, Mani S.

SAGE Open Med Case Rep. 2015 Dec 15;3:2050313X15621857. doi: 10.1177/2050313X15621857.

Spinocerebellar ataxia type 3/Machado-Joseph disease manifested as spastic paraplegia: A clinical and genetic study.

Song Y, Liu Y, Zhang N, Long L.

Exp Ther Med. 2015 Feb;9(2):417-420.