Artículos por temáticas

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.

Ilg W, Fleszar Z, Schatton C, Hengel H, Harmuth F, Bauer P, Timmann D, Giese M, Schöls L, Synofzik M.

Mov Disord. 2016 Dec;31(12):1891-1900. doi: 10.1002/mds.26835.

Acute Ataxia in Children: A Review of the Differential Diagnosis and Evaluation in the Emergency Department.

Caffarelli M, Kimia AA, Torres AR.

Pediatr Neurol. 2016 Dec;65:14-30. doi: 10.1016/j.pediatrneurol.2016.08.025. Review.

Late-onset episodic ataxia associated with SLC1A3 mutation.

Choi KD, Jen JC, Choi SY, Shin JH, Kim HS, Kim HJ, Kim JS, Choi JH.

J Hum Genet. 2016 Nov 10. doi: 10.1038/jhg.2016.137. [Epub ahead of print]

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.

Pradotto L, Mencarelli M, Bigoni M, Milesi A, Di Blasio A, Mauro A.

J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029.

Progression of Gait Ataxia in Patients with Degenerative Cerebellar Disorders: a 4-Year Follow-Up Study.

Serrao M, Chini G, Casali C, Conte C, Rinaldi M, Ranavolo A, Marcotulli C, Leonardi L, Fragiotta G, Bini F, Coppola G, Pierelli F.

Cerebellum. 2016 Dec 6. doi: 10.1007/s12311-016-0837-2. [Epub ahead of print]

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family.

Palmio J, Kärppä M, Baumann P, Penttilä S, Moilanen J, Udd B.

Clin Case Rep. 2016 Oct 26;4(12):1151-1156.

Double Disassociation of Anosognosia for Alexia and Simultanagnosia but Quantitative Awareness of Optic Ataxia.

Williams RC, Patira R, Altschuler EL.

Am J Phys Med Rehabil. 2016 Mar;95(3):230-4. doi: 10.1097/PHM.0000000000000380.

Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis.

Yang S, Li XJ, Li S.

Rare Dis. 2016 Aug 12;4(1):e1223580. doi: 10.1080/21675511.2016.1223580.

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.

Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.

Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.

Rawat A, Imai K, Suri D, Gupta A, Bhisikar S, Saikia B, Minz RW, Sehgal S, Singh S.

Indian J Pediatr. 2016 Mar;83(3):270-1. doi: 10.1007/s12098-015-1852-x. No abstract available.

Ataxia in a chronic kidney disease patient on anti-tubercular therapy.

Pathania D, Phanish MK, Vishal J, Kher V.

Indian J Nephrol. 2016 Jan-Feb;26(1):52-4. doi: 10.4103/0971-4065.157803.

Late-onset cerebellar ataxia: Do not forget Friedreich's.

Stamelou M.

Mov Disord. 2016 Jan;31(1):7-8. doi: 10.1002/mds.26508. No abstract available.

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.

Cazzato D, Dalla Bella E, Dacci P, Mariotti C, Lauria G.

J Neurol. 2016 Feb;263(2):245-9. doi: 10.1007/s00415-015-7951-9.

Internuclear ophthalmoplegia plus ataxia indicates a dorsomedial tegmental lesion at the pontomesencephalic junction.

Lee SU, Kim HJ, Park JJ, Kim JS.

J Neurol. 2016 May;263(5):973-80. doi: 10.1007/s00415-016-8088-1.

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.

Duan R, Shi Y, Yu L, Zhang G, Li J, Lin Y, Guo J, Wang J, Shen L, Jiang H, Wang G, Tang B.

PLoS One. 2016 Feb 12;11(2):e0149039. doi: 10.1371/journal.pone.0149039.