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Neurogenetics

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01-04-2020 | Torticollis Spasticus | Letter to Editor

Of cognition and cerebellum in SCA48

Authors: Giovanna De Michele, Elena Salvatore, Sirio Cocozza, Alessandro Filla, Filippo M. Santorelli

Published in: Neurogenetics | Issue 2/2020

Excerpt

Sir, …

Palvadeau R, Kaya-Güleç ZE, Şimşir G, Vural A, Öztop-Çakmak Ö, Genç G, Aygün MS, Falay O, Başak AN, Ertan S (2019) Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. Neurogenetics. https://doi.org/10.1007/s10048-019-00595-0 CrossRef

Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P (2018) Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 91:e1988–e1998. https://doi.org/10.1212/WNL.00000000000065502 CrossRefPubMed

De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM (2019) Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: a report of two Italian families. Parkinsonism Relat Disord. https://doi.org/10.1016/j.parkreldis.2019.05.001 CrossRef

Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G (2019) The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. Eur J Neurol. https://doi.org/10.1111/ene.14094 CrossRef

Pujol S, Wells W, Pierpaoli C, Brun C, Gee J, Cheng G, Vemuri B, Commowick O, Prima S, Stamm A, Goubran M, Khan A, Peters T, Neher P, Maier-Hein KH, Shi Y, Tristan-Vega A, Veni G, Whitaker R, Styner M, Westin CF, Gouttard S, Norton I, Chauvin L, Mamata H, Gerig G, Nabavi A, Golby A, Kikinis R (2015) The DTI challenge: toward standardized evaluation of diffusion tensor imaging tractography for neurosurgery. J Neuroimaging 25:875–882. https://doi.org/10.1111/jon.12283 CrossRefPubMedPubMedCentral

Title: Of cognition and cerebellum in SCA48
Authors: Giovanna De Michele
Elena Salvatore
Sirio Cocozza
Alessandro Filla
Filippo M. Santorelli
Publication date: 01-04-2020
Publisher: Springer Berlin Heidelberg
Keyword: Torticollis Spasticus
Published in: Neurogenetics / Issue 2/2020
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-020-00603-8

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