Artículos por temáticas

First case report on Bickerstaff brainstem encephalitis in a young adult from Syria: Bridging clinical knowledge and practice

Almohamed A, Qatza A, Alsamman H, Hamsho S, Atia M, Tamer R, Ali AM, Kazkz W.

Radiol Case Rep. 2024 Dec 3;20(2):1211-1214. doi: 10.1016/j.radcr.2024.11.006. eCollection 2025 Feb.

Sialidosis type 1 in a Turkish family: a case report and review of literatures

Kılıç M, İcil S, Sezer A, Kaya-Güneş Ö, Comoğlu SS.

J Pediatr Endocrinol Metab. 2024 Dec 30;38(2):176-186. doi: 10.1515/jpem-2024-0468. Print 2025 Feb 25.

Creutzfeldt-Jakob disease: A case report

Butt FR, Dhivagaran T, Naqvi S.

Radiol Case Rep. 2024 Nov 29;20(2):1095-1098. doi: 10.1016/j.radcr.2024.11.011. eCollection 2025 Feb.

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation

Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, Ben Sira L, Fattal-Valevski A, Dolgin V, Birk OS, Kessel A, Bross P, Weiss C, Azem A, Zere

J Med Genet. 2024 Dec 31;62(1):15-24. doi: 10.1136/jmg-2024-109862.

MRI diagnosis of a juvenile leukoencephalopathy with vanishing white matter: A rare case report from Morocco and literature review

Ziani C, Ziani H, Oukrid K, Nasri S, Kamaoui I, Skiker I.

Radiol Case Rep. 2024 Nov 14;20(1):767-771. doi: 10.1016/j.radcr.2024.10.085. eCollection 2025 Jan.

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.

Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

Sather RN 3rd, Brown C, Montezuma SR.

Ophthalmic Genet. 2024 Dec;45(6):657-662. doi: 10.1080/13816810.2024.2388598. Epub 2024 Aug 16.

Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation

Sugumaran R, Bhuvaneswaran R, Narayan SK.

Acta Neurol Belg. 2024 Dec;124(6):2039-2042. doi: 10.1007/s13760-024-02627-5. Epub 2024 Aug 29.

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.

Brain invasion by an otherwise benign meningioma in a cat

Arai K, Nakamura S, Matsubara K, Ozaki Y, Kadekaru S, Sugiyama A, Mitsui I, Akashi N, Yoshitake R, Kutara K.

JFMS Open Rep. 2024 Dec 16;10(2):20551169241291842. doi: 10.1177/20551169241291842. eCollection 2024 Jul-Dec.

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.

Effects of Anodal tDCS Applied Over the Cerebellum Combined with Physical Therapy on Center of Gravity Sway in a Patient with Cerebellar Ataxia: A Single-Case Study

Sato Y, Hasui N, Mizuta N, Ohnishi S, Okada Y, Nakatani T, Taguchi J, Morioka S.

Cerebellum. 2024 Dec;23(6):2638-2645. doi: 10.1007/s12311-024-01719-5. Epub 2024 Jul 25.

Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss

Nallapaneni LM, Mehta A, Hiremath P, Pradeep R, Javali M, Acharya PT.

Cerebellum. 2024 Dec 27;24(1):19. doi: 10.1007/s12311-024-01779-7.

Life-threatening presentation of an acute cerebellar ischemic stroke secondary to a protein C deficiency

Ajmi H, Oueslati N, Chabaane M, Arifa N.

Childs Nerv Syst. 2024 Dec;40(12):4381-4384. doi: 10.1007/s00381-024-06640-0. Epub 2024 Oct 4.

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.