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@ARTICLE{Pellerin:276089,
      author       = {Pellerin, David and Iruzubieta, Pablo and Xu, Isaac R L and
                      Danzi, Matt C and Cortese, Andrea and Synofzik, Matthis and
                      Houlden, Henry and Zuchner, Stephan and Brais, Bernard},
      title        = {{R}ecent {A}dvances in the {G}enetics of {A}taxias: {A}n
                      {U}pdate on {N}ovel {A}utosomal {D}ominant {R}epeat
                      {E}xpansions.},
      journal      = {Current neurology and neuroscience reports},
      volume       = {25},
      number       = {1},
      issn         = {1528-4042},
      address      = {Philadelphia, Pa.},
      publisher    = {Current Science Inc.},
      reportid     = {DZNE-2025-00170},
      pages        = {16},
      year         = {2025},
      abstract     = {Autosomal dominant cerebellar ataxias, also known as
                      spinocerebellar ataxias (SCAs), are genetically and
                      clinically diverse neurodegenerative disorders characterized
                      by progressive cerebellar dysfunction. Despite advances in
                      sequencing technologies, a large proportion of patients with
                      SCA still lack a definitive genetic diagnosis. The advent of
                      advanced bioinformatic tools and emerging genomics
                      technologies, such as long-read sequencing, offers an
                      unparalleled opportunity to close the diagnostic gap for
                      hereditary ataxias. This article reviews the recently
                      identified repeat expansion SCAs and describes their
                      molecular basis, epidemiology, and clinical
                      features.Leveraging advanced bioinformatic tools and
                      long-read sequencing, recent studies have identified novel
                      pathogenic short tandem repeat expansions in FGF14, ZFHX3,
                      and THAP11, associated with SCA27B, SCA4, and SCA51,
                      respectively. SCA27B, caused by an intronic (GAA)•(TTC)
                      repeat expansion, has emerged as one of the most common
                      forms of adult-onset hereditary ataxias, especially in
                      European populations. The coding GGC repeat expansion in
                      ZFHX3 causing SCA4 was identified more than 25 years after
                      the disorder's initial clinical description and appears to
                      be a rare cause of ataxia outside northern Europe. SCA51,
                      caused by a coding CAG repeat expansion, is overall rare and
                      has been described in a small number of patients. The recent
                      identification of three novel pathogenic repeat expansions
                      underscores the importance of this class of genomic
                      variation in the pathogenesis of SCAs. Progress in
                      sequencing technologies holds promise for closing the
                      diagnostic gap in SCAs and guiding the development of
                      therapeutic strategies for ataxia.},
      subtyp        = {Review Article},
      keywords     = {Humans / Spinocerebellar Ataxias: genetics /
                      Spinocerebellar Ataxias: diagnosis / DNA Repeat Expansion:
                      genetics / Autosomal dominant cerebellar ataxia (Other) /
                      FGF14 (Other) / Genome sequencing (Other) / Spinocerebellar
                      ataxia (Other) / Spinocerebellar ataxia 27B (SCA27B) (Other)
                      / Spinocerebellar ataxia 4 (SCA4) (Other) / Spinocerebellar
                      ataxia 51 (SCA51) (Other) / THAP11 (Other) / ZFHX3 (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:39820740},
      doi          = {10.1007/s11910-024-01400-8},
      url          = {https://pub.dzne.de/record/276089},
}