Artículos por temáticas

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review

Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S.

Eur J Ophthalmol. 2022 May;32(3):NP92-NP97. doi: 10.1177/11206721211021291. Epub 2021 Jun 2.

Correction to: Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro

Papais Alvarenga M, Coral Siciliani L, Silva Carvalho R, Carolina Ganimi M, Penna PS.

Neurol Sci. 2022 May 7. doi: 10.1007/s10072-022-06117-5. Online ahead of print.

The positive short-term effect of dexamethasone on ataxia symptoms in a patient with ataxia-telangiectasia: A case report

Saberi-Karimian M, Beyraghi-Tousi M, Jamialahmadi T, Sahebkar A.

Clin Case Rep. 2022 May 20;10(5):e05895. doi: 10.1002/ccr3.5895. eCollection 2022 May.

Reply to: "Comment on: Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood"

Hübener-Schmid J, Kuhlbrodt K, Peladan J; European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) Study Group, Rieß O.

Mov Disord. 2022 May;37(5):1121-1122. doi: 10.1002/mds.29003.

Guillain-Barré syndrome spectrum as manifestation of HIV-related immune reconstitution inflammatory syndrome: case report and literature review

Vidal JE, Guedes BF, Gomes HR, Mendonça RH.

Braz J Infect Dis. 2022 May 20:102368. doi: 10.1016/j.bjid.2022.102368. Online ahead of print.

Pyruvate Dehydrogenase Complex Deficiency Due to PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children

Pavuluri H, F A, Menon RN, Nair SS, Sundaram S.

Indian J Pediatr. 2022 May;89(5):519. doi: 10.1007/s12098-021-04068-x. Epub 2022 Feb 8.

The Ratio of Expanded to Normal Ataxin 3 in Peripheral Blood Mononuclear Cells Correlates with the Age at Onset in Spinocerebellar Ataxia Type 3

Breuer P, Rasche T, Han X, Faber J, Haustein K, Klockgether T, Wüllner U.

Mov Disord. 2022 May;37(5):1098-1099. doi: 10.1002/mds.28962. Epub 2022 Mar 12.

Movement Disorders Secondary to Novel Antiseizure Medications in Pediatric Populations: A Systematic Review and Meta-analysis of Risk

Peacock DJSJ, Yoneda JRK, Siever JE, Vis-Dunbar M, Boelman C.

J Child Neurol. 2022 May;37(6):524-533. doi: 10.1177/08830738221089742. Epub 2022 Apr 7.

First familial cases of P102L Gerstmann-Sträussler-Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability

Ahn SJ, Lee HS, Moon J, Chu K.

Neurol Sci. 2022 May;43(5):3419-3422. doi: 10.1007/s10072-022-05927-x. Epub 2022 Feb 7.

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report

Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y.

BMC Neurol. 2022 May 25;22(1):193. doi: 10.1186/s12883-022-02711-4.

Ataxia-telangiectasia mutated (ATM) gene mutation in a patient with primary cutaneous marginal zone lymphoma

Sarver MM, Breglio KF, Olsen EA.

JAAD Case Rep. 2022 Mar 10;23:73-75. doi: 10.1016/j.jdcr.2022.02.032. eCollection 2022 May.

Epilepsia Partialis Continua a Clinical Feature of a Missense Variant in the ADCK3 Gene and Poor Response to Therapy

Ashrafi MR, Haghighi R, Badv RS, Ghabeli H, Tavasoli AR, Pourbakhtyaran E, Rezaei Z, Mahdieh N, Mohammadi P, Heidari M.

J Mol Neurosci. 2022 May;72(5):1125-1132. doi: 10.1007/s12031-022-01993-0. Epub 2022 Mar 11.

Integrating visual search, eye movement training and reversing prism exposure in the treatment of Balint-Holmes syndrome: a single case report

Panico F, Arini A, Cantone P, Crisci C, Trojano L.

Top Stroke Rehabil. 2022 May;29(4):280-285. doi: 10.1080/10749357.2021.1923319. Epub 2021 May 7.

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update

Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C,

Mov Disord. 2022 May;37(5):905-935. doi: 10.1002/mds.28982. Epub 2022 Apr 28.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders

Lacombe D, Van-Gils J, Lebrun M, Trimouille A, Michaud V, Cabet S, Chateil JF, Pedespan JM, Bar C, Lesca G.

Brain Dev. 2022 May 24:S0387-7604(22)00082-1. doi: 10.1016/j.braindev.2022.05.001. Online ahead of print.