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000281817 041__ $$aEnglish
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000281817 1001_ $$00000-0003-0217-8630$$aIndelicato, Elisabetta$$b0
000281817 245__ $$aGAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
000281817 260__ $$aNew York, NY$$bWiley$$c2025
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000281817 520__ $$aAn intronic (GAA)•(TTC) repeat expansion in FGF14 was recently identified as the cause of spinocerebellar ataxia 27B (SCA27B), a disorder presenting with both chronic cerebellar ataxia and episodic symptoms. The phenotype of SCA27B overlaps with that of CACNA1A spectrum disorders.The objective of this work was to investigate the prevalence of GAA-FGF14 repeat expansions in patients with ataxia so far considered to be related to underlying CACNA1A variants.This is a cross-sectional multicenter study.GAA-FGF14 testing showed pathogenic expansions (≥250 repeats) in 6/67 (9%) patients carrying CACNA1A variants. All patients with a pathogenic GAA-FGF14 expansion had a disease onset >40 years and carried variants of uncertain significance (VUSs) in CACNA1A. Genetic reevaluation led to the reclassification of CACNA1A VUSs as likely benign in four of six patients, who were ultimately diagnosed with SCA27B.Late-onset ataxia cases previously considered as CACNA1A-related disorder should be reevaluated and tested for SCA27B, particularly if related to a VUS in CACNA1A. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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000281817 650_7 $$2Other$$aCACNA1A
000281817 650_7 $$2Other$$aGAA‐FGF14 ataxia
000281817 650_7 $$2Other$$aSCA27B
000281817 650_7 $$2Other$$aepisodic ataxia
000281817 650_7 $$2Other$$aspinocerebellar ataxia 27B
000281817 650_7 $$2NLM Chemicals$$aCACNA1A protein, human
000281817 650_7 $$2NLM Chemicals$$afibroblast growth factor 14
000281817 650_7 $$062031-54-3$$2NLM Chemicals$$aFibroblast Growth Factors
000281817 650_7 $$2NLM Chemicals$$aCalcium Channels
000281817 650_2 $$2MeSH$$aHumans
000281817 650_2 $$2MeSH$$aMale
000281817 650_2 $$2MeSH$$aFemale
000281817 650_2 $$2MeSH$$aMiddle Aged
000281817 650_2 $$2MeSH$$aCross-Sectional Studies
000281817 650_2 $$2MeSH$$aAdult
000281817 650_2 $$2MeSH$$aFibroblast Growth Factors: genetics
000281817 650_2 $$2MeSH$$aPhenotype
000281817 650_2 $$2MeSH$$aAged
000281817 650_2 $$2MeSH$$aCalcium Channels: genetics
000281817 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000281817 650_2 $$2MeSH$$aSpinocerebellar Ataxias: diagnosis
000281817 7001_ $$0P:(DE-2719)9000074$$aFleszar, Zofia$$b1$$udzne
000281817 7001_ $$aPellerin, David$$b2
000281817 7001_ $$aNachbauer, Wolfgang$$b3
000281817 7001_ $$aZuchner, Stephan$$b4
000281817 7001_ $$0P:(DE-2719)9000792$$aTraschütz, Andreas$$b5
000281817 7001_ $$aAmprosi, Matthias$$b6
000281817 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b7$$udzne
000281817 7001_ $$aHaack, Tobias B$$b8
000281817 7001_ $$aBrais, Bernard$$b9
000281817 7001_ $$aBoesch, Sylvia$$b10
000281817 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b11$$eLast author
000281817 773__ $$0PERI:(DE-600)2041249-6$$a10.1002/mds.30328$$gVol. 40, no. 10, p. 2262 - 2268$$n10$$p2262 - 2268$$tMovement disorders$$v40$$x0885-3185$$y2025
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