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@ARTICLE{Wirth:282565,
      author       = {Wirth, Thomas and Faber, Jennifer and Depienne, Christel
                      and Roze, Emmanuel and Honnorat, Jérôme and Meissner,
                      Wassilios G and Giunti, Paola and Tranchant, Christine and
                      Klockgether, Thomas and Anheim, Mathieu},
      title        = {{P}rogress and challenges in sporadic late-onset cerebellar
                      ataxias.},
      journal      = {Nature reviews / Neurology},
      volume       = {21},
      number       = {12},
      issn         = {1759-4758},
      address      = {London},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DZNE-2025-01328},
      pages        = {687 - 705},
      year         = {2025},
      abstract     = {Sporadic late-onset cerebellar ataxia (SLOCA) is a syndrome
                      defined by subacute or chronic and progressive ataxia
                      occurring after the age of 40 years in individuals without a
                      family history of ataxia. The 2022 publication of revised
                      consensus diagnostic criteria for multiple system atrophy
                      and the emergence of promising biomarkers provides a
                      thorough diagnostic framework that now enables the diagnosis
                      of numerous acquired causes of SLOCA, including autoimmune
                      disorders and neurodegenerative diseases. The ongoing
                      development and increased availability of DNA sequencing
                      technology have uncovered several molecular causes of SLOCA
                      besides spastic paraplegia type 7 and very late-onset
                      Friedreich ataxia. These additional causes include sporadic
                      genetic disorders, such as spinocerebellar atrophy type 27B,
                      caused by GAA expansion in the FGF14 gene, and cerebellar
                      ataxia with neuropathy and vestibular areflexia syndrome
                      (CANVAS), caused by biallelic expansions in the RFC1 gene.
                      This Review presents an updated clinical approach to the
                      diagnosis and management of SLOCA that focuses on the most
                      important developments in this field. Future challenges are
                      also discussed, including the identification of additional
                      missing genetic causes of SLOCA, especially via the use of
                      long-read genome sequencing, improvements in SLOCA
                      prognostication and the implementation of clinical trials of
                      neuroprotective interventions.},
      subtyp        = {Review Article},
      keywords     = {Humans / Cerebellar Ataxia: diagnosis / Cerebellar Ataxia:
                      genetics / Cerebellar Ataxia: therapy / Age of Onset},
      cin          = {Clinical Research (Bonn) / Patient Studies (Bonn)},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40983776},
      doi          = {10.1038/s41582-025-01136-0},
      url          = {https://pub.dzne.de/record/282565},
}