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@ARTICLE{Indelicato:281817,
      author       = {Indelicato, Elisabetta and Fleszar, Zofia and Pellerin,
                      David and Nachbauer, Wolfgang and Zuchner, Stephan and
                      Traschütz, Andreas and Amprosi, Matthias and Schöls,
                      Ludger and Haack, Tobias B and Brais, Bernard and Boesch,
                      Sylvia and Synofzik, Matthis},
      title        = {{GAA}-{FGF}14 {E}xpansions and {CACNA}1{A} {V}ariants:
                      {P}henotypic {O}verlap and {D}iagnostic {I}mplications.},
      journal      = {Movement disorders},
      volume       = {40},
      number       = {10},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-01199},
      pages        = {2262 - 2268},
      year         = {2025},
      abstract     = {An 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.},
      keywords     = {Humans / Male / Female / Middle Aged / Cross-Sectional
                      Studies / Adult / Fibroblast Growth Factors: genetics /
                      Phenotype / Aged / Calcium Channels: genetics /
                      Spinocerebellar Ataxias: genetics / Spinocerebellar Ataxias:
                      diagnosis / CACNA1A (Other) / GAA‐FGF14 ataxia (Other) /
                      SCA27B (Other) / episodic ataxia (Other) / spinocerebellar
                      ataxia 27B (Other) / CACNA1A protein, human (NLM Chemicals)
                      / fibroblast growth factor 14 (NLM Chemicals) / Fibroblast
                      Growth Factors (NLM Chemicals) / Calcium Channels (NLM
                      Chemicals)},
      cin          = {AG Gasser / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40879304},
      doi          = {10.1002/mds.30328},
      url          = {https://pub.dzne.de/record/281817},
}