Artículos por temáticas

Managing tremor in fragile X-associated tremor/ataxia syndrome with botulinum neurotoxin: report of a success

Cimmino AT, Sanginario P, Bentivoglio AR, Petracca M, Di Lazzaro G.

Neurol Sci. 2024 Oct;45(10):5097-5099. doi: 10.1007/s10072-024-07594-6. Epub 2024 May 17.

Reduced Age-Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74-Year-Old Woman from a German Family with SCA27B

Pellerin D, Seemann J, Traschütz A, Brais B, Ilg W, Synofzik M.

Mov Disord. 2024 Oct;39(10):1892-1894. doi: 10.1002/mds.29915. Epub 2024 Jul 1.

Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype

Joyce E, Ali M, Richard G, Kelly S, Martin F, Conlon PJ, Whelehan A, Ng YS, Lefter S.

Eur J Neurol. 2024 Oct;31(10):e16405. doi: 10.1111/ene.16405. Epub 2024 Jul 8.

Clinical Reasoning: A 49-Year-Old Man With Progressive Numbness, Gait Instability, and Tremors

Jones FJS, Cohen AD, Karam C.

Neurology. 2024 Oct 8;103(7):e209879. doi: 10.1212/WNL.0000000000209879. Epub 2024 Sep 5.

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

Mascarenhas S, Yeole M, Rao LP, do Rosario MC, Majethia P, Nair KV, Sharma S, Barala PK, Puri RD, Pal S, Siddiqui S, Shukla A.

Clin Dysmorphol. 2024 Oct 1;33(4):160-166. doi: 10.1097/MCD.0000000000000490. Epub 2024 Jul 16.

Relative Bioavailability of Omaveloxolone When Capsules Are Sprinkled Over and Mixed in Applesauce Compared With Administration as Intact Omaveloxolone Capsules: A Phase 1, Randomized, Open-Label, Single-Dose, Crossover Study in Healthy Adults

Hynes SM, Goldsberry A, Henneghan PD, Murai M, Shinde A, Wells JA, Wu L, Wu T, Zahir H, Khan S.

J Clin Pharmacol. 2024 Oct;64(10):1304-1311. doi: 10.1002/jcph.2482. Epub 2024 Jun 4.

Simple sutureless closure of a thoracic ventral dural defect in a patient with superficial siderosis: technical report

Yano Y, Takeshima Y, Okamoto A, Yokoyama S, Nakagawa I, Nakase H.

Br J Neurosurg. 2024 Oct;38(5):1199-1202. doi: 10.1080/02688697.2022.2106351. Epub 2022 Aug 1.

Urinary incontinence and sabulous cystitis in mares: report of five cases

de Melo UP, Ferreira C.

Braz J Vet Med. 2024 Oct 21;46:e005024. doi: 10.29374/2527-2179.bjvm005024. eCollection 2024.

Novel observation for adult ataxia-telangiectasia: evaluating the lack of hypointensity of the dentate nuclei

Tiet MY, Scoffings D, Blanchard C, Dineen RA, Horvath R, Hensiek A.

J Neurol Neurosurg Psychiatry. 2024 Oct 2:jnnp-2024-334398. doi: 10.1136/jnnp-2024-334398. Online ahead of print.

Effect of Regional Brain Activity Following Repeat Transcranial Magnetic Stimulation in SCA3: A Secondary Analysis of a Randomized Clinical Trial

Liu X, Zhang L, Xu HL, Liu XH, Sikandar A, Li MC, Xia XY, Huang ZQ, Chen NP, Tu YQ, Hu JP, Gan SR, Chen QL, Chen XY, Wang SZ; Members of the Organization in South-East China for Cerebellar Ataxia Rese

Cerebellum. 2024 Oct;23(5):1923-1931. doi: 10.1007/s12311-024-01689-8. Epub 2024 Apr 1.

Ectatic vertebral artery associated medullary compression treated with microvascular decompression: a case report and review of literature

Bissell JN, Edelbach B, Gospodarev V, De Los Reyes KM, Pillai P.

J Med Case Rep. 2024 Oct 8;18(1):485. doi: 10.1186/s13256-024-04713-x.

The peculiar clinical presentation and diagnostic results of a case of widely metastatic cholangiocellular carcinoma in a Siberian Husky dog

Reichert H, Macleod A, Sharkey L, Peterson C.

Top Companion Anim Med. 2024 Oct 10;63:100923. doi: 10.1016/j.tcam.2024.100923. Online ahead of print.

Dystonia in a Patient with Genetically Proven Salih Ataxia Due to a Novel Truncating Variant: Expanding the Genotypic and Phenotypic Spectrum

Kamble N, Holla VV, Katragadda PK, Muthusamy B, Pal PK.

Mov Disord Clin Pract. 2024 Oct;11(10):1295-1297. doi: 10.1002/mdc3.14152. Epub 2024 Jun 27.

Ocular Flutter Evoked by Vestibular Stimulation in Multiple System Atrophy with Predominant Cerebellar Ataxia

So MG, Lee SU, Lee CN, Kim JS.

Cerebellum. 2024 Oct;23(5):2214-2216. doi: 10.1007/s12311-024-01713-x. Epub 2024 Jun 24.

Essential Thrombocythemia Possible Cause of Ischemic Cerebrovascular Disease: A Case Report

Korucu I, Ciril MF.

Cureus. 2024 Oct 19;16(10):e71846. doi: 10.7759/cureus.71846. eCollection 2024 Oct.