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@ARTICLE{Maas:285346,
      author       = {Maas, Roderick P P W M and Garcia-Moreno, Hector and Faber,
                      Jennifer and Gonzalez, Carlos and Schöls, Ludger and de
                      Vries, Jeroen J and Bushara, Khalaf and Reetz, Kathrin and
                      Onyike, Chiadi U and Jacobi, Heike and Erdlenbruch,
                      Friedrich and Infante, Jon and Santana, Magda M and
                      Hübener-Schmid, Jeannette and de Almeida, Luís Pereira and
                      Lima, Manuela and Giunti, Paola and Klockgether, Thomas and
                      van de Warrenburg, Bart P C},
      collaboration = {group, ESMI study},
      title        = {{C}ognitive impairment in {SCA}3: {A} multi-center cohort
                      study with demographic, imaging, and biomarker correlates.},
      journal      = {Neurobiology of disease},
      volume       = {220},
      issn         = {0969-9961},
      address      = {[Amsterdam]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2026-00212},
      pages        = {107301},
      year         = {2026},
      abstract     = {Cognitive deficits are common in spinocerebellar ataxia
                      type 3 (SCA3), but their neurobiological correlates remain
                      largely unknown.To investigate cognitive performance in a
                      large international cohort of SCA3 mutation carriers
                      covering the entire disease course and to explore
                      associations with posterior cerebellar volumes, basal
                      ganglia and thalamus volumes, and plasma neurofilament light
                      chain (NfL) concentration.The Montreal Cognitive Assessment
                      (MoCA) was used to evaluate cognitive impairment in this
                      prospective, observational cohort study involving 13 ataxia
                      referral centers. Standardized motor assessments, brain MR
                      imaging, and peripheral blood biosampling were also
                      performed.MoCA data were collected from 61 pre-ataxic SCA3
                      mutation carriers, 231 ataxic SCA3 patients, and 111 healthy
                      controls. After adjustments for educational level and age,
                      there were significant differences in MoCA total score, as
                      well as visuospatial/executive, attention, language, and
                      abstraction subscores, between healthy controls and ataxic,
                      but not pre-ataxic individuals. MoCA scores declined with
                      ataxia severity, especially in patients with a lower
                      educational level. Patients with a MoCA score < 26 had lower
                      pallidal volumes and higher plasma NfL concentrations than
                      those with a score ≥ 26. However, only the interaction
                      term between ataxia severity and educational level was
                      independently associated with cognitive performance in
                      multivariable regression analyses containing demographic,
                      clinical, volumetric, and biochemical parameters.Cognitive
                      deficits in SCA3 generally appear after clinical ataxia
                      onset and progress in parallel with ataxia severity,
                      especially in patients with a lower cognitive reserve. Other
                      measured biochemical and imaging parameters did not have a
                      significant additional contribution.},
      keywords     = {Humans / Male / Female / Middle Aged / Cognitive
                      Dysfunction: diagnostic imaging / Cognitive Dysfunction:
                      etiology / Cognitive Dysfunction: blood / Cognitive
                      Dysfunction: psychology / Adult / Biomarkers: blood /
                      Magnetic Resonance Imaging / Machado-Joseph Disease:
                      complications / Machado-Joseph Disease: diagnostic imaging /
                      Machado-Joseph Disease: psychology / Machado-Joseph Disease:
                      genetics / Machado-Joseph Disease: blood / Cohort Studies /
                      Neurofilament Proteins: blood / Aged / Prospective Studies /
                      Mental Status and Dementia Tests / Cerebellum (Other) /
                      Cognition (Other) / Machado-Joseph disease (Other) /
                      Spinocerebellar ataxia type 3 (Other) / Biomarkers (NLM
                      Chemicals) / Neurofilament Proteins (NLM Chemicals) /
                      neurofilament protein L (NLM Chemicals)},
      cin          = {Clinical Research (Bonn) / AG Schöls / Patient Studies
                      (Bonn)},
      ddc          = {570},
      cid          = {I:(DE-2719)1011001 / I:(DE-2719)5000005 /
                      I:(DE-2719)1011101},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      experiment   = {EXP:(DE-2719)ESMI-20140101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41654200},
      doi          = {10.1016/j.nbd.2026.107301},
      url          = {https://pub.dzne.de/record/285346},
}