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@ARTICLE{ahin:282325,
      author       = {Şahin, Erdi and Samanci, Bedia and Yalçın Çakmaklı,
                      Gül and Lohmann, Ebba and Güven, Gamze and Gökalp, Ebru
                      Erzurumluoğlu and Gündüz, Ayşegül and Başak, Ayşe
                      Nazlı and Ertan, Sibel and Elibol, Bülent and Bilgiç,
                      Başar and Hanağası, Haşmet},
      title        = {{FBXO}7 {P}athogenic {V}ariants in {E}arly-{O}nset
                      {P}arkinsonism: {I}nsights from a {N}euroimaging
                      {P}erspective and {R}eview of the {L}iterature.},
      journal      = {Movement disorders clinical practice},
      volume       = {12},
      number       = {11},
      issn         = {2330-1619},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-01286},
      pages        = {1972 - 1980},
      year         = {2025},
      abstract     = {Early onset parkinsonism caused by F-box only protein7
                      (FBXO7) pathogenic variants is a rare autosomal recessive
                      disorder presenting with a combination of parkinsonism,
                      pyramidal signs, dystonia, cognitive impairment, and
                      psychiatric features. Although previous case reports have
                      mentioned neuroimaging findings, there is no comprehensive
                      study characterizing the radiological spectrum of FBXO7
                      pathogenic variants.Ten patients from seven families
                      followed at two tertiary centers in Turkey were included.
                      The cohort included six males and four females with a mean
                      onset age of 21.1 years. Frontal atrophy was the most common
                      MRI finding, followed by global cortical and cerebellar
                      atrophy. One patient showed iron accumulation in the
                      pallidum, and two exhibited severe dopaminergic deficit on
                      DaTSCAN.Pathogenic variants in the FBXO7 gene have been
                      identified in diverse populations over the past 15 years,
                      contributing to a broader understanding of clinical and
                      radiological spectrum. Global cortical atrophy has emerged
                      as the most frequently reported neuroimaging finding in
                      FBXO7-related parkinsonism.FBXO7 pathogenic variants are
                      associated with heterogeneous neuroimaging findings. Frontal
                      and global cortical atrophy are common, while iron
                      deposition and DaTSCAN abnormalities offer additional
                      diagnostic clues. Larger, longitudinal studies are necessary
                      to establish specific imaging biomarkers for FBXO7-related
                      neurodegeneration.},
      subtyp        = {Review Article},
      keywords     = {Humans / Male / Female / Parkinsonian Disorders: genetics /
                      Parkinsonian Disorders: diagnostic imaging / Parkinsonian
                      Disorders: pathology / F-Box Proteins: genetics / Adult /
                      Neuroimaging / Young Adult / Magnetic Resonance Imaging /
                      Adolescent / Age of Onset / Atrophy / Brain: diagnostic
                      imaging / Brain: pathology / FBXO7 (Other) / early‐onset
                      (Other) / genetic (Other) / neuroimaging (Other) /
                      parkinsonism (Other) / FBXO7 protein, human (NLM Chemicals)
                      / F-Box Proteins (NLM Chemicals)},
      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:40740144},
      pmc          = {pmc:PMC12625086},
      doi          = {10.1002/mdc3.70269},
      url          = {https://pub.dzne.de/record/282325},
}