Artículos por temáticas

[Report of a family with spinocerebellar ataxia and SCA1 gene mutation].

Chen J, Wang Y, Zeng G, Li G.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):138-9. doi: 10.3760/cma.j.issn.1003-9406.2015.01.035. Chinese. No abstract available.

Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.

Pretegiani E, Rosini F, Federighi P, Cerase A, Dotti MT, Rufa A.

Eur J Neurol. 2015 Jun;22(6):e67-9. doi: 10.1111/ene.12661. No abstract available.

Paroxysmal dysarthria ataxia syndrome responds to lacosamide.

Lilleker JB, Gall C, Dayanandan R, Chhetri SK, Emsley HC.

Mult Scler. 2015 Feb;21(2):256. doi: 10.1177/1352458514546792. No abstract available.

Spinocerebellar ataxia type 2 in The Gambia: A case report.

Almaguer-Mederos LE, Sarr L, Abascal JV, Aguilera-Rodríquez R, Martín MA, Khalil MI, Al-Jafari MA, de Jorge López L, Volpini V, Nyan O.

J Neurol Sci. 2015 Feb 15;349(1-2):269-71. doi: 10.1016/j.jns.2015.01.027. No abstract available.

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.

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.

González-Zaldívar Y, Vázquez-Mojena Y, Laffita-Mesa JM, Almaguer-Mederos LE, Rodríguez-Labrada R, Sánchez-Cruz G, Aguilera-Rodríguez R, Cruz-Mariño T, Canales-Ochoa N, MacLeod P, Velázquez-Pérez L.

Cerebellum Ataxias. 2015 Feb 21;2:1. doi: 10.1186/s40673-015-0020-4.

Unexpected nerve neuroimaging findings in Friedreich's ataxia.

Salvalaggio A, Cacciavillani M, Lucchetta M, Manara R, Gasparotti R, Briani C.

Clin Neurophysiol. 2015 May;126(5):1058-61. doi: 10.1016/j.clinph.2014.08.014. No abstract available.

Gait and balance in adults with Friedreich's ataxia.

Stephenson J, Zesiewicz T, Gooch C, Wecker L, Sullivan K, Jahan I, Kim SH.

Gait Posture. 2015 Feb;41(2):603-7. doi: 10.1016/j.gaitpost.2015.01.002.

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome.

Oh SY, He F, Krans A, Frazer M, Taylor JP, Paulson HL, Todd PK.

Hum Mol Genet. 2015 Aug 1;24(15):4317-26. doi: 10.1093/hmg/ddv165.

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.

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.

Cycling regimen induces spinal circuitry plasticity and improves leg muscle coordination in individuals with spinocerebellar ataxia.

Chang YJ, Chou CC, Huang WT, Lu CS, Wong AM, Hsu MJ.

Arch Phys Med Rehabil. 2015 Jun;96(6):1006-13. doi: 10.1016/j.apmr.2015.01.021.

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia.

Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF.

J Neurol. 2015 Aug;262(8):1822-7. doi: 10.1007/s00415-015-7772-x.

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.

Dalal A, Bhowmik AD, Agarwal D, Phadke SR.

Indian J Med Res. 2015 Aug;142(2):220-4. doi: 10.4103/0971-5916.164262. No abstract available.

Early and severe autonomic failure: broadening the clinical phenotype of type-2 spinocerebellar ataxia. A case report.

Capozzo R, Rizzo G, De Mari M, Tortorella C, Logroscino G.

J Neurol. 2015 Jan;262(1):224-5. doi: 10.1007/s00415-014-7577-3. No abstract available.