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@ARTICLE{Scaravilli:272819,
      author       = {Scaravilli, Alessandra and Tranfa, Mario and Pontillo,
                      Giuseppe and Brais, Bernard and De Michele, Giovanna and La
                      Piana, Roberta and Saccà, Francesco and Santorelli, Filippo
                      Maria and Synofzik, Matthis and Brunetti, Arturo and
                      Cocozza, Sirio},
      title        = {{CHARON}: {A}n {I}maging-{B}ased {D}iagnostic {A}lgorithm
                      to {N}avigate {T}hrough the {S}ea of {H}ereditary
                      {D}egenerative {A}taxias.},
      journal      = {The cerebellum},
      volume       = {23},
      number       = {5},
      issn         = {1473-4222},
      address      = {New York},
      publisher    = {Springer US},
      reportid     = {DZNE-2024-01237},
      pages        = {2122 - 2129},
      year         = {2024},
      abstract     = {The complexity in diagnosing hereditary degenerative
                      ataxias lies not only in their rarity, but also in the
                      variety of different genetic conditions that can determine
                      sometimes similar and overlapping clinical findings. In this
                      light, Magnetic Resonance Imaging (MRI) plays a key role in
                      the evaluation of these conditions, being a fundamental
                      diagnostic tool needed not only to exclude other causes
                      determining the observed clinical phenotype, but also to
                      proper guide to an adequate genetic testing. Here, we
                      propose an MRI-based diagnostic algorithm named CHARON
                      (Characterization of Hereditary Ataxias Relying On
                      Neuroimaging), to help in disentangling among the numerous,
                      and apparently very similar, hereditary degenerative
                      ataxias. Being conceived from a neuroradiological
                      standpoint, it is based primarily on an accurate evaluation
                      of the observed MRI findings, with the first and most
                      important being the pattern of cerebellar atrophy. Along
                      with the evaluation of the presence, or absence, of
                      additional signal changes and/or supratentorial involvement,
                      CHARON allows for the identification of a small groups of
                      ataxias sharing similar imaging features. The integration of
                      additional MRI findings, demographic, clinical and
                      laboratory data allow then for the identification of
                      typical, and in some cases pathognomonic, phenotypes of
                      hereditary ataxias.},
      subtyp        = {Review Article},
      keywords     = {Humans / Algorithms / Magnetic Resonance Imaging: methods /
                      Neuroimaging: methods / Algorithm (Other) / Ataxia (Other) /
                      Magnetic Resonance Imaging (Other) / Neuroimaging (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},
      pmc          = {pmc:PMC11489197},
      pubmed       = {pmid:38436911},
      doi          = {10.1007/s12311-024-01677-y},
      url          = {https://pub.dzne.de/record/272819},
}