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@ARTICLE{Pellerin:267343,
      author       = {Pellerin, David and Danzi, Matt C and Renaud, Mathilde and
                      Houlden, Henry and Synofzik, Matthis and Zuchner, Stephan
                      and Brais, Bernard},
      title        = {{S}pinocerebellar ataxia 27{B}: {A} novel, frequent and
                      potentially treatable ataxia.},
      journal      = {Clinical and translational medicine},
      volume       = {14},
      number       = {1},
      issn         = {2001-1326},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DZNE-2024-00107},
      pages        = {e1504},
      year         = {2024},
      abstract     = {Hereditary ataxias, especially when presenting sporadically
                      in adulthood, present a particular diagnostic challenge
                      owing to their great clinical and genetic heterogeneity.
                      Currently, up to $75\%$ of such patients remain without a
                      genetic diagnosis. In an era of emerging disease-modifying
                      gene-stratified therapies, the identification of causative
                      alleles has become increasingly important. Over the past few
                      years, the implementation of advanced bioinformatics tools
                      and long-read sequencing has allowed the identification of a
                      number of novel repeat expansion disorders, such as the
                      recently described spinocerebellar ataxia 27B (SCA27B)
                      caused by a (GAA)•(TTC) repeat expansion in intron 1 of
                      the fibroblast growth factor 14 (FGF14) gene. SCA27B is
                      rapidly gaining recognition as one of the most common forms
                      of adult-onset hereditary ataxia, with several studies
                      showing that it accounts for a substantial number $(9-61\%)$
                      of previously undiagnosed cases from different cohorts.
                      First natural history studies and multiple reports have
                      already outlined the progression and core phenotype of this
                      novel disease, which consists of a late-onset slowly
                      progressive pan-cerebellar syndrome that is frequently
                      associated with cerebellar oculomotor signs, such as
                      downbeat nystagmus, and episodic symptoms. Furthermore,
                      preliminary studies in patients with SCA27B have shown
                      promising symptomatic benefits of 4-aminopyridine, an
                      already marketed drug. This review describes the current
                      knowledge of the genetic and molecular basis, epidemiology,
                      clinical features and prospective treatment strategies in
                      SCA27B.},
      subtyp        = {Review Article},
      keywords     = {Adult / Humans / Spinocerebellar Ataxias: diagnosis /
                      Spinocerebellar Ataxias: drug therapy / Spinocerebellar
                      Ataxias: genetics / Ataxia: complications / Phenotype /
                      4-aminopyridine (Other) / FGF14 (Other) / GAA-FGF14 ataxia
                      (Other) / cerebellar ataxia (Other) / genetics (Other) /
                      repeat expansion disorder (Other) / therapy (Other)},
      cin          = {AG Gasser},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38279833},
      pmc          = {pmc:PMC10819088},
      doi          = {10.1002/ctm2.1504},
      url          = {https://pub.dzne.de/record/267343},
}