Artículos por temáticas

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.

Hajjari M, Tahmasebi-Birgani M, Mohammadi-Asl J, Nasiri H, Kollaee A, Mahmoodi M, Ansari H.

Gene. 2019 May 10;708:10-13. doi: 10.1016/j.gene.2019.05.016. [Epub ahead of print]

Nocebo in cerebellar ataxia: A systematic review and meta-analysis of placebo-controlled clinical trials.

Alam JM, Hadjivassiliou M, Zis P.

J Neurol Sci. 2019 Apr 30;401:112-117. doi: 10.1016/j.jns.2019.04.039. [Epub ahead of print]

Rational Design of 5-(4-(Isopropylsulfonyl)phenyl)-3-(3-(4-((methylamino)methyl)phenyl)isoxazol-5-yl)pyrazin-2-amine (VX-970, M6620): Optimization of Intra- and Intermolecular Polar Interactions of a New Ataxia Telangiectasia Mutated and Rad3-Related (ATR) Kinase Inhibitor.

Knegtel R, Charrier JD, Durrant S, Davis C, O'Donnell M, Storck P, MacCormick S, Kay D, Pinder J, Virani A, Twin H, Griffiths M, Reaper P, Littlewood P, Young S, Golec J, Pollard J.

J Med Chem. 2019 May 16. doi: 10.1021/acs.jmedchem.9b00426. [Epub ahead of print]

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G, Schule R, van de Warrenburg BPC, De Jonghe P, Ewenczyk C, Martinuzzi A, Synofzik M, Hamer EG, Baets J, Anheim M, Schöls L, Deconinck T, Masrori P, Fontaine B, Klockgether T, D'Angelo MG, M

Neurology. 2019 May 8. pii: 10.1212/WNL.0000000000007606. doi: 10.1212/WNL.0000000000007606. [Epub ahead of print]

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.

Nicita F, Nardella M, Bellacchio E, Alfieri P, Terrone G, Piccini G, Graziola F, Pignata C, Capuano A, Bertini E, Zanni G.

Clin Genet. 2019 May 8. doi: 10.1111/cge.13562. [Epub ahead of print]

ACR Appropriateness Criteria(®) Ataxia.

Expert Panel on Neurologic Imaging:., Juliano AF, Policeni B, Agarwal V, Burns J, Bykowski J, Harvey HB, Hoang JK, Hunt CH, Kennedy TA, Moonis G, Pannell JS, Parsons MS, Powers WJ, Rosenow JM, Schroed

J Am Coll Radiol. 2019 May;16(5S):S44-S56. doi: 10.1016/j.jacr.2019.02.021.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Ala

Hum Mutat. 2019 May 3. doi: 10.1002/humu.23778. [Epub ahead of print]

Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

Gama MTD, Braga-Neto P, Dutra LA, Alessi H, Maria LA, Gadelha AA, Ortiz BB, Kunii I, Correia-Silva SR, Dias da Silva MR, Dion PA, Rouleau GA, França MC Jr, Barsottini OGP, Pedroso JL.

Cerebellum. 2019 May 2. doi: 10.1007/s12311-019-01033-5. [Epub ahead of print]

Diagnosis and management of progressive ataxia in adults.

de Silva RN, Vallortigara J, Greenfield J, Hunt B, Giunti P, Hadjivassiliou M.

Pract Neurol. 2019 Jun;19(3):196-207. doi: 10.1136/practneurol-2018-002096. Epub 2019 May 2. Review.

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, E

Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.

Does integrated cognitive and balance (dual-task) training improve balance and reduce falls risk in individuals with cerebellar ataxia?

Winser S, Pang MYC, Rauszen JS, Chan AYY, Chen CH, Whitney SL.

Med Hypotheses. 2019 May;126:149-153. doi: 10.1016/j.mehy.2019.03.001. Epub 2019 Mar 5.

Different patterns of movement-related cortical oscillations in patients with myoclonus and in patients with spinocerebellar ataxia.

Visani E, Mariotti C, Nanetti L, Mongelli A, Castaldo A, Panzica F, Franceschetti S, Canafoglia L.

Clin Neurophysiol. 2019 May;130(5):714-721. doi: 10.1016/j.clinph.2019.01.021. Epub 2019 Feb 16.

White matter rather than gray matter damage characterizes essential tremor.

Pietracupa S, Bologna M, Bharti K, Pasqua G, Tommasin S, Elifani F, Paparella G, Petsas N, Grillea G, Berardelli A, Pantano P.

Eur Radiol. 2019 May 28. doi: 10.1007/s00330-019-06267-9. [Epub ahead of print]

Etiologic links between environmental and lifestyle factors and Essential tremor.

Ong YL, Deng X, Tan EK.

Ann Clin Transl Neurol. 2019 May 1;6(5):979-989. doi: 10.1002/acn3.758. eCollection 2019 May. Review.

The influence of posture duration on hand tremor during tasks with attention-distraction in persons with Parkinson's disease.

Malling ASB, Morberg BM, Wermuth L, Gredal O, Bech P, Jensen BR.

J Neuroeng Rehabil. 2019 May 28;16(1):61. doi: 10.1186/s12984-019-0534-8.