Artículos por temáticas

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Pomarino D, Thren JR, Thren A, Rostasy K, Schoenfeldt J.

Glob Med Genet. 2021 Oct 19;9(1):51-53. doi: 10.1055/s-0041-1736483. eCollection 2022 Mar.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, Hanna MG, Minetti C, Striano P, Pisciotta

Am J Hum Genet. 2021 Dec 2;108(12):2385. doi: 10.1016/j.ajhg.2021.11.013.

The Role of Imaging Studies in Favor of Possible Cerebellar Multiple System Atrophy: A Case Study

Utrera-Costero A, Martinez-Sanchis B, Sopena-Novales P, Bello-Arques P.

Clin Nucl Med. 2021 Dec 1;46(12):e603-e604. doi: 10.1097/RLU.0000000000003767.

Versatile Role of (18)F-FDG PET/CT in a Patient with Pan-cerebellar Paraneoplastic Manifestation Due to Underlying Hodgkin's Lymphoma

Aggarwal P, Kavanal AJ, Singh H, Kumar R, Ranjan R, Baishya J, Bhattacharya A.

Nucl Med Mol Imaging. 2021 Dec;55(6):311-314. doi: 10.1007/s13139-021-00720-8. Epub 2021 Oct 21.

Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS

Kim S, Kim MJ, Son H, Hwang S, Kang MK, Chu K, Lee SK, Moon J.

Ann Clin Transl Neurol. 2021 Dec;8(12):2319-2326. doi: 10.1002/acn3.51483. Epub 2021 Nov 27.

Reply to: "Further Perspectives on the Neural Bases of Cognitive Impairments in Spinocerebellar Ataxia Type 10"

Chirino-Pérez A, Vaca-Palomares I, Fernandez-Ruiz J.

Mov Disord. 2021 Dec;36(12):2978. doi: 10.1002/mds.28827.

Spinocerebellar ataxia recessive type 7 due to novel compound heterozygous variants in TPP1: First report from India

Holla VV, Jha S, Pal PK, Yadav R, Phulpagar P, Muthusamy B, Arunachal G.

Parkinsonism Relat Disord. 2021 Dec 15;94:117-119. doi: 10.1016/j.parkreldis.2021.12.006. Online ahead of print.

RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia

Gu C, Wang H, Shu J, Zheng J, Li D, Cai C, Zhang P.

Clin Chim Acta. 2021 Dec;523:6-9. doi: 10.1016/j.cca.2021.08.026. Epub 2021 Aug 25.

Reply to: "Cognitive Impairments in Spinocerebellar Ataxia Type 10 and Their Relation to Cortical Thickness"

Meira AT, Arruda WO, Franklin GL, Coutinho L, Strobel G, Ono SE, de Carvalho Neto A, Camargo CHF, Munhoz RP, Ashizawa T, Teive HAG.

Mov Disord. 2021 Dec;36(12):2977. doi: 10.1002/mds.28832.

Gait ataxia due to chronic cerebrospinal fluid overshunting: A case report

Van Le T, Minh Hoang T.

Rev Neurol (Paris). 2021 Dec;177(10):1296-1297. doi: 10.1016/j.neurol.2021.02.388. Epub 2021 Jun 26.

Opsoclonus myoclonus ataxia may differentiate postinfectious autoimmune encephalitis from infectious encephalitis

Lee SJ, Shin IJ, Kim TJ.

Neurol Sci. 2021 Dec;42(12):5395-5398. doi: 10.1007/s10072-021-05632-1. Epub 2021 Sep 29.

Surgical treatment of post-traumatic luxation of rib heads with spinal cord compression in a cat

Sterna JC, Rogowska L, Degórska B, Sobczyński J, Łumińska M.

Acta Vet Scand. 2021 Dec 20;63(1):53. doi: 10.1186/s13028-021-00619-6.

Miller-Fisher Syndrome and Guillain-Barre Syndrome overlap syndrome in a patient post Oxford-AstraZeneca SARS-CoV-2 vaccination

Dang YL, Bryson A.

BMJ Case Rep. 2021 Nov 30;14(11):e246701. doi: 10.1136/bcr-2021-246701.

[Microscopic excision of a colloyd cyst of the third ventricle assisted by endoscopy. Case report and literature analysis.]

Alvarez Cuevas G, Sciarra M, De Battista JC, Coca H, Campos G, Toscano M.

Rev Fac Cien Med Univ Nac Cordoba. 2021 Dec 28;78(4):395-397. doi: 10.31053/1853.0605.v78.n4.32094.

Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM

Sato D, Moriya K, Nakano T, Miyagawa C, Katayama S, Niizuma H, Sasahara Y, Kure S.

Int J Hematol. 2021 Dec;114(6):735-741. doi: 10.1007/s12185-021-03203-w. Epub 2021 Aug 23.