A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
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Published:2023-07-07
Issue:10
Volume:270
Page:5057-5063
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ISSN:0340-5354
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Container-title:Journal of Neurology
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language:en
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Short-container-title:J Neurol
Author:
Torella Annalaura, Ricca Ivana, Piluso Giulio, Galatolo Daniele, De Michele Giuseppe, Zanobio Mariateresa, Trovato Rosanna, De Michele Giovanna, Zeuli Roberta, Pane Chiara, Cocozza Sirio, Saccà Francesco, Santorelli Filippo M., Nigro Vincenzo, Filla AlessandroORCID
Abstract
AbstractTubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of α- and β-tubulins, the structural components of microtubules. Less frequently, mutations in tubulins may underlie neurodegenerative disorders. In the present study, we report two families, one with 11 affected individuals and the other with a single patient, carrying a novel, likely pathogenic, variant (p. Glu415Lys) in the TUBA4A gene (NM_006000). The phenotype, not previously described, is that of spastic ataxia. Our findings widen the phenotypic and genetic manifestations of TUBA4A variants and add a new type of spastic ataxia to be taken into consideration in the differential diagnosis.
Funder
AISA Ministero della Salute EJR-RD Solve-RD Italian Telethon Foundation Università degli Studi di Napoli Federico II
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Reference21 articles.
1. Kapitein LC, Hoogenraad CC (2015) Building the neuronal microtubule cytoskeleton. Neuron 87:492–506. https://doi.org/10.1016/j.neuron.2015.05.046. (PMID: 26247859) 2. Bahi-Buisson N, Maillard C. Tubulinopathies Overview. 2016 Mar 24 [updated 2021 Sep 16]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 27010057. 3. Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E (2018) Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopath. Hum Mol Genet 27:1892–1904. https://doi.org/10.1093/hmg/ddy096. (PMID: 29547997) 4. Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE (2014) Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84:324-31. https://doi.org/10.1016/j.neuron.2014.09.027. (Epub 2014 Oct 22. PMID: 25374358; PMCID: PMC4521390) 5. Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D’Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V, SLAGEN Consortium (2015) TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations. J Neurol 262:1376–8. https://doi.org/10.1007/s00415-015-7739-y. (Epub 2015 Apr 18. PMID: 25893256; PMCID: PMC6614739)
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