Artículos por temáticas

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

Holling T, Abdelrazek IM, Elhady GM, Abd Elmaksoud M, Ryu SW, Abdalla E, Kutsche K.

J Hum Genet. 2024 Dec;69(12):623-628. doi: 10.1038/s10038-024-01279-w. Epub 2024 Jul 31.

Subtypes of cognitive impairment in cerebellar disease identified by cross-diagnostic cluster-analysis: results from a German multicenter study

Liu Q, Rubarth K, Faber J, Sulzer P, Dogan I, Barkhoff M, Minnerop M, Berlijn AM, Elben S, Jacobi H, Aktories JE, Huvermann DM, Erdlenbruch F, Van der Veen R, Müller J, Nio E, Frank B, Köhrmann M, Won

J Neurol. 2024 Dec 21;272(1):83. doi: 10.1007/s00415-024-12831-1.

Anti-Collapsin Response Mediator Protein 5(CV2/CRMP5) and Anti-Glutamic Acid Decarboxylase (GAD) Antibodies-Mediated Encephalopathy Mimicking Atypical Parkinsonism

Schirò G, Gastaldi M, Iacono S, Scaranzin S, Picciolo V, Arnao V, Ferrari A, Gagliardo C, D'Amelio M.

Neurol Int. 2024 Dec 16;16(6):1849-1855. doi: 10.3390/neurolint16060132.

Correction: Bright middle cerebellar peduncle sign in multiple system atrophy with predominant cerebellar ataxia is more apparent in double-inversion recovery imaging than in conventional imaging

Shiraishi W, Matsuyoshi A, Nakazawa Y, Inamori Y, Yogi A, Hashimoto T.

PLoS One. 2024 Dec 2;19(12):e0315022. doi: 10.1371/journal.pone.0315022. eCollection 2024.

Anti-GluK2 Encephalitis in an Asian Child: A Case Report and Literature Review

Chen S, Kessi M, He F, Yin F, Peng J, Yang L.

Immunotargets Ther. 2024 Dec 17;13:805-811. doi: 10.2147/ITT.S498345. eCollection 2024.

Case report: paraneoplastic cerebellar degeneration associated with anti-Yo antibody successfully treated with ofatumumab

Dou J, Yue X, Ren H, Wang C, Guo S.

Front Immunol. 2024 Dec 16;15:1476397. doi: 10.3389/fimmu.2024.1476397. eCollection 2024.

Case report: Treatment of non-medical tetrahydrocannabinol toxicosis with transmucosal cannabidiol-infused dissolving sheets in six dogs

Marsigliano K, Green K, DiGangi BA.

Front Vet Sci. 2024 Dec 9;11:1448123. doi: 10.3389/fvets.2024.1448123. eCollection 2024.

Overlap of Miller-Fisher Syndrome and Pharyngeal-Cervical-Brachial Variant Secondary to COVID-19 in Recurrent Guillain-Barré Syndrome: A Case Report

Hammad T, Hossain S, Alayyan A.

Cureus. 2024 Dec 2;16(12):e74954. doi: 10.7759/cureus.74954. eCollection 2024 Dec.

[Traumatic subluxation of the cervical spine in an 1-year-old alpaca mare]

Hümmelchen H, Petzold J, Wagner H.

Tierarztl Prax Ausg G Grosstiere Nutztiere. 2024 Dec;52(6):346-351. doi: 10.1055/a-2450-9478. Epub 2024 Dec 5.

EVIDENCE FOR ADRENAL DYSFUNCTION CONTRIBUTING TO PERACUTE MORTALITY SYNDROME IN RED PANDA (AILURUS FULGENS)

Kane LP, Aitken-Palmer C, Parkinson L, Kuzma CA, Colegrove KM, Delaney MA.

J Zoo Wildl Med. 2024 Dec;55(4):1104-1113. doi: 10.1638/2023-0029.

STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy

Agianda HAP, Tam A, Kunta A, Zubair U, Saffari A, Rong J, Crough M, Srouji R, Quiroz V, Yang K, Schierbaum L, Ebrahimi-Fakhari D.

Mov Disord Clin Pract. 2024 Dec 27. doi: 10.1002/mdc3.14322. Online ahead of print.

Identification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia

Kavishwar M, Bisen P, Baheti S, Wade P.

BMJ Case Rep. 2024 Dec 16;17(12):e260342. doi: 10.1136/bcr-2024-260342.

Intramedullary schwannoma of conus medullaris with syringomyelia: a case report and literature review

Guo H, Wang Y, Wang L, Han D, Meng X, Mu Q, Chen X.

Front Oncol. 2024 Dec 2;14:1422958. doi: 10.3389/fonc.2024.1422958. eCollection 2024.

Whip It Good: A Case of Vitamin B12 Deficiency and Subacute Combined Degeneration of the Spinal Cord

Pourshams IA, Arora M, Nimkar S, Kumbham P.

Cureus. 2024 Nov 27;16(11):e74620. doi: 10.7759/cureus.74620. eCollection 2024 Nov.

Cerebellar syndrome: do not miss anti-Tr antibodies testing

Bacharis A, Parisis D, Afrantou T, Grigoriadis N, Ioannidis P.

Acta Neurol Belg. 2024 Dec;124(6):2005-2007. doi: 10.1007/s13760-024-02562-5. Epub 2024 May 8.