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@ARTICLE{Silva:284358,
      author       = {Silva, Patrick and Costa, Marina A and Gaspar, Laetitia and
                      Durães, João and Cunha, Inês and Ribeiro, Joana A and
                      Januário, Cristina and Oliveiros, Bárbara and
                      Hübener-Schmid, Jeannette and Faber, Jennifer and Raposo,
                      Mafalda and Lima, Manuela and Garcia-Moreno, Hector and
                      Giunti, Paola and Beichert, Lukas and Schöls, Ludger and
                      van de Warrenburg, Bart P and de Vries, Jeroen and Thieme,
                      Andreas and Reetz, Kathrin and Jacobi, Heike and Infante,
                      Jon and Klockgether, Thomas and de Almeida, Luís Pereira
                      and Santana, Magda M},
      collaboration = {Group, ESMI Study},
      othercontributors = {Ferreira, Ana and Rosa, Ana and Gonzalez, Carlos and
                          Gonzalez-Robles, Cristina and Timmann, Dagmar and
                          Erdlenbruch, Friedrich and Lemos, João and Vasconcelos,
                          João and Teves, Luís and Pires, Paula and Lopes, Pedro and
                          Coelho, Pedro and Kay, Teresa},
      title        = {{T}he {M}edication {P}atterns of {S}pinocerebellar {A}taxia
                      {T}ype 3 {M}utation {C}arriers {E}nrolled in the {ESMI}
                      {C}ohort.},
      journal      = {CNS drugs},
      volume       = {40},
      number       = {2},
      issn         = {1172-7047},
      address      = {Berlin [u.a.]},
      publisher    = {Springer},
      reportid     = {DZNE-2026-00126},
      pages        = {233 - 246},
      year         = {2026},
      abstract     = {Spinocerebellar ataxia type 3 (SCA3) is one of the most
                      common dominantly inherited ataxias worldwide. Despite
                      research advances, no approved disease-modifying treatment
                      exists, and management focuses on symptom alleviation and
                      functional capacity maximization. Symptomatic treatment
                      guidelines are scarce, leaving decisions to physicians'
                      discretion. The lack of studies on SCA3 symptom management
                      hinders therapy standardization. The aim of this study was
                      to investigate medication-usage patterns among SCA3 mutation
                      carriers and controls included in the multicentric European
                      Spinocerebellar Ataxia Type-3/Machado-Joseph Disease
                      Initiative (ESMI) cohort.We conducted a retrospective
                      cross-sectional analysis of the medication taken by ESMI
                      participants enrolled in the study between 2016 and 2023.
                      Medication being used at the most recent follow-up visit
                      available was categorized according to the Anatomical
                      Therapeutic Chemical system. Comparisons between groups were
                      performed using nonparametric tests for continuous variables
                      and Fisher's exact test for categorical variables. In
                      addition, a retrospective longitudinal analysis was
                      conducted to study the impact of medication subclasses on
                      disease progression, using linear mixed-effects models
                      adjusted for relevant covariates.A total of 474 participants
                      were included, comprising 344 SCA3 mutation carriers and 130
                      controls. Compared with controls, SCA3 subjects took more
                      vitamins, mineral supplements, muscle relaxants, and
                      medications targeting the nervous system. Psychoanaleptics
                      and vitamins were introduced early in the disease course,
                      whereas most other subclasses were initiated in mid-to-late
                      stages, coinciding with the onset of neurological symptoms.
                      Substantial disparities in medication usage were observed
                      across the study centers. None of the medication subclasses
                      commonly used by patients with SCA3 showed a significant
                      impact on disease progression.This is the first study to
                      explore medication usage patterns in SCA3 mutation carriers.
                      Our study provides a comprehensive overview of the
                      medications administered in SCA3 and underscores the
                      importance of collaborative efforts toward achieving
                      standardized clinical practices in the management of this
                      disease.},
      keywords     = {Humans / Machado-Joseph Disease: drug therapy /
                      Machado-Joseph Disease: genetics / Male / Female /
                      Cross-Sectional Studies / Retrospective Studies / Middle
                      Aged / Mutation / Adult / Cohort Studies / Disease
                      Progression / Heterozygote / Longitudinal Studies / Aged /
                      Ataxin-3: genetics / Europe / Ataxin-3 (NLM Chemicals)},
      cin          = {Clinical Research (Bonn) / AG Schöls / Patient Studies
                      (Bonn)},
      ddc          = {610},
      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},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41105366},
      doi          = {10.1007/s40263-025-01237-w},
      url          = {https://pub.dzne.de/record/284358},
}