Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”

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Published in	Movement disorders Vol. 38; no. 8; pp. 1575 - 1577
Main Authors	Pellerin, David, Iruzubieta, Pablo, Tekgül, Şeyma, Danzi, Matt C., Ashton, Catherine, Dicaire, Marie‐Josée, Wandzel, Marion, Roth, Virginie, Lamont, Phillipa J., Bonnet, Céline, Renaud, Mathilde, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard, Başak, Nazlı A., Houlden, Henry
Format	Journal Article
Language	English
Published	Hoboken, USA John Wiley & Sons, Inc 01.08.2023 Wiley Subscription Services, Inc
Subjects	Ataxia Ataxia - genetics Cerebellar Ataxia Chile Friedreich Ataxia - genetics Humans Movement disorders Trinucleotide Repeat Expansion Chile
Online Access	Get full text
ISSN	0885-3185 1531-8257 1531-8257
DOI	10.1002/mds.29552

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Author	Tekgül, Şeyma Iruzubieta, Pablo Bonnet, Céline Danzi, Matt C. Ashton, Catherine Başak, Nazlı A. Roth, Virginie Zuchner, Stephan Wandzel, Marion Houlden, Henry Renaud, Mathilde Synofzik, Matthis Lamont, Phillipa J. Pellerin, David Brais, Bernard Dicaire, Marie‐Josée
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Cites_doi	10.1056/NEJMoa2207406 10.1016/j.ajhg.2023.05.005 10.1101/2023.05.11.540430 10.1056/NEJMc2301605 10.1038/s41598-023-36654-8 10.1212/WNL.53.8.1854 10.1002/mds.29559 10.1002/mds.29390 10.1093/brain/awad157
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Notes	Relevant conflicts of interest/financial disclosures D.P., P.I., Ş.T., M.C.D., C.A., M.‐J.D., M.W., V.R., P.J.L., C.B., and M.R. report no disclosures. M.S. has received consultancy honoraria from Janssen, Ionis, Orphazyme, Servier, Reata, GenOrph, and AviadoBio, all unrelated to the present manuscript. S.Z. received consultancy honoraria from Neurogene, Aeglea BioTherapeutics, and Applied Therapeutics, and is an unpaid officer of the TGP Foundation, all unrelated to the present manuscript. B.B., N.A.B., and H.H. report no disclosures. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Correspondence-1 content type line 23
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References	2023 2023; 38 1999; 53 2023; 388 2023; 110 e_1_2_3_2_1 Hengel H (e_1_2_3_7_1) 2023; 38 e_1_2_3_6_1 e_1_2_3_5_1 e_1_2_3_4_1 e_1_2_3_3_1 e_1_2_3_9_1 e_1_2_3_8_1 e_1_2_3_10_1 37565403 - Mov Disord. 2023 Aug;38(8):1577-1578. doi: 10.1002/mds.29551.
References_xml	– volume: 388 issue: 21 year: 2023 article-title: Deep intronic FGF14 GAA repeat expansion in late‐onset cerebellar ataxia publication-title: N Engl J Med – year: 2023 article-title: Shaking up ataxia: FGF14 and RFC1 repeat expansions in affected and unaffected members of a Chilean family publication-title: Mov Disord – volume: 388 start-page: 128 issue: 2 year: 2023 end-page: 141 article-title: Deep intronic FGF14 GAA repeat expansion in late‐onset cerebellar ataxia publication-title: N Engl J Med – volume: 38 start-page: 1557 issue: 8 year: 2023 end-page: 1558 article-title: As frequent as polyglutamine SCAs: SCA27B in a large German autosomal dominant ataxia cohort publication-title: Mov Disord – volume: 110 start-page: 1018 issue: 6 year: 2023 article-title: An intronic GAA repeat expansion in FGF14 causes the autosomal‐dominant adult‐onset ataxia SCA27B/ATX‐FGF14 publication-title: Am J Hum Genet – year: 2023 article-title: GAA‐FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4‐aminopyridine treatment response publication-title: Brain – volume: 53 start-page: 1854 issue: 8 year: 1999 end-page: 1857 article-title: A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis publication-title: Neurology – ident: e_1_2_3_3_1 doi: 10.1056/NEJMoa2207406 – ident: e_1_2_3_4_1 doi: 10.1016/j.ajhg.2023.05.005 – ident: e_1_2_3_9_1 doi: 10.1101/2023.05.11.540430 – ident: e_1_2_3_6_1 doi: 10.1056/NEJMc2301605 – ident: e_1_2_3_10_1 doi: 10.1038/s41598-023-36654-8 – ident: e_1_2_3_8_1 doi: 10.1212/WNL.53.8.1854 – volume: 38 start-page: 1557 issue: 8 year: 2023 ident: e_1_2_3_7_1 article-title: As frequent as polyglutamine SCAs: SCA27B in a large German autosomal dominant ataxia cohort publication-title: Mov Disord doi: 10.1002/mds.29559 – ident: e_1_2_3_2_1 doi: 10.1002/mds.29390 – ident: e_1_2_3_5_1 doi: 10.1093/brain/awad157 – reference: 37565403 - Mov Disord. 2023 Aug;38(8):1577-1578. doi: 10.1002/mds.29551.
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SubjectTerms	Ataxia Ataxia - genetics Cerebellar Ataxia Chile Friedreich Ataxia - genetics Humans Movement disorders Trinucleotide Repeat Expansion
Title	Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
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