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Movement disorders
Original research
Does sex influence the natural history of idiopathic adult-onset dystonia?
  1. Vittorio Velucci1,
  2. Sarah Idrissi1,
  3. Roberta Pellicciari1,
  4. Marcello Esposito2,
  5. Assunta Trinchillo3,4,
  6. Daniele Belvisi5,6,
  7. Giovanni Fabbrini5,6,
  8. Gina Ferrazzano5,
  9. Carmen Terranova7,
  10. Paolo Girlanda7,
  11. Giovanni Majorana7,
  12. Vincenzo Rizzo7,
  13. Francesco Bono8,
  14. Giovanni Idone8,
  15. Vincenzo Laterza8,
  16. Laura Avanzino9,10,
  17. Francesca Di Biasio10,
  18. Roberta Marchese10,
  19. Anna Castagna11,
  20. Marina Ramella11,
  21. Christian Lettieri12,
  22. Sara Rinaldo13,
  23. Maria Concetta Altavista14,
  24. Luigi Polidori14,
  25. Laura Bertolasi15,
  26. Maria Chiara Tozzi15,
  27. Roberto Erro16,
  28. Paolo Barone16,
  29. Pierangelo Barbero17,
  30. Roberto Ceravolo18,
  31. Marcello Mario Mascia19,
  32. Tommaso Ercoli20,
  33. Antonella Muroni19,
  34. Carlo Alberto Artusi21,
  35. Maurizio Zibetti21,
  36. Cesa Lorella Maria Scaglione22,
  37. Anna Rita Bentivoglio23,
  38. Maria Sofia Cotelli24,
  39. Luca Magistrelli25,
  40. Giovanni Cossu26,
  41. Alberto Albanese27,
  42. Giovanna Maddalena Squintani28,
  43. Tommaso Schirinzi29,
  44. Angelo Fabio Gigante30,
  45. Luca Maderna31,
  46. Roberto Eleopra13,
  47. Antonio Pisani32,
  48. Daniela Cassano33,
  49. Marcello Romano34,
  50. Marina Rizzo34,
  51. Alfredo Berardelli5,6,
  52. Giovanni Defazio1
  53. Italian Dystonia Registry Participants
    1. 1Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy
    2. 2Clinical Neurophysiology Unit, Antonio Cardarelli Hospital, Naples, Italy
    3. 3Department of Neurosciences, Reproductive Sciences and Odontostomatology, Federico II University Hospital, Naples, Italy
    4. 4Neurosciences Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, UK
    5. 5Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy
    6. 6IRCCS Neuromed Institute, Pozzilli, Italy
    7. 7Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
    8. 8Center for Botulinum Toxin Therapy, Neurologic Unit, Mater Domini University Hospital, Catanzaro, Italy
    9. 9Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy
    10. 10IRCCS Ospedale Policlinico San Martino, Genoa, Italy
    11. 11IRCCS Don Gnocchi Foundation, Milan, Italy
    12. 12Clinical Neurology Unit, Santa Maria della Misericordia University Hospital, Udine, Italy
    13. 13Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
    14. 14Neurology Unit, Presidio Ospedaliero San Filippo Neri, Rome, Italy
    15. 15Neurologic Unit, Integrated University Hospital of Verona, Verona, Italy
    16. 16Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy
    17. 17Neurology Unit, Mauriziano Umberto I Hospital, Turin, Italy
    18. 18Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
    19. 19University Hospital of Cagliari, Cagliari, Italy
    20. 20Sassari University Hospital, Sassari, Italy
    21. 21Department of Neuroscience "Rita Levi Montalcini", University of Turin, Turin, Italy
    22. 22IRCCS Institute of Neurological Sciences, Bologna, Italy
    23. 23Movement Disorders Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy
    24. 24Neurology Unit, ASST Valcamonica, Esine, Italy
    25. 25Department of Translational Medicine, Movement Disorders Centre, Neurology Unit, University of Eastern Piedmont, Novara, Italy
    26. 26Neurology Service and Stroke Unit, Department of Neuroscience, AO Brotzu, Cagliari, Italy
    27. 27Department of Neurology, IRCCS Humanitas Research Hospital, Rozzano, Italy
    28. 28Neurology Unit, Department of Neurosciences, AOUI Verona, Verona, Italy
    29. 29Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy
    30. 30Section of Neurology, San Paolo Hospital, Bari, Italy
    31. 31Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy
    32. 32Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
    33. 33Unit of Neurology, Maria Vittoria Hospital, Turin, Italy
    34. 34Neurology Unit, Villa Sofia Cervello United Hospitals, Palermo, Italy
    1. Correspondence to Dr Vittorio Velucci, Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, 70124, Italy; vittoriovelucci{at}gmail.com

    Abstract

    Background Several earlier studies showed a female predominance in idiopathic adult-onset dystonia (IAOD) affecting the craniocervical area and a male preponderance in limb dystonia. However, sex-related differences may result from bias inherent to study design. Moreover, information is lacking on whether sex-related differences exist in expressing other dystonia-associated features and dystonia spread.

    Objective To provide accurate information on the relationship between sex differences, motor phenomenology, dystonia-associated features and the natural history of IAOD.

    Methods Data of 1701 patients with IAOD from the Italian Dystonia Registry were analysed.

    Results Women predominated over men in blepharospasm, oromandibular, laryngeal and cervical dystonia; the sex ratio was reversed in task-specific upper limb dystonia; and no clear sex difference emerged in non-task-specific upper limb dystonia and lower limb dystonia. This pattern was present at disease onset and the last examination. Women and men did not significantly differ for several dystonia-associated features and tendency to spread. In women and men, the absolute number of individuals who developed dystonia tended to increase from 20 to 60 years and then declined. However, when we stratified by site of dystonia onset, different patterns of female-to-male ratio over time could be observed in the various forms of dystonia.

    Conclusions Our findings provide novel evidence on sex as a key mediator of IAOD phenotype at disease onset. Age-related sexual dimorphism may result from the varying exposures to specific age-related and sex-related environmental risk factors interacting in a complex manner with biological factors such as hormonal sex factors.

    • DYSTONIA

    Data availability statement

    Data are available upon reasonable request. Requests for data sharing can be sent to the corresponding author, Vittorio Velucci, at the email address vittoriovelucci@gmail.com.

    https://doi.org/10.1136/jnnp-2023-332927

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      Data availability statement

      Data are available upon reasonable request. Requests for data sharing can be sent to the corresponding author, Vittorio Velucci, at the email address vittoriovelucci@gmail.com.

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      Footnotes

      • Twitter @ercolitommaso, @ArtusiScience, @AlbertoAlbanes5, @Tom85_58

      • Collaborators Italian Dystonia Registry Participants: Marco Aguggia (Neurology Department, Asti Hospital, Asti, Italy.), Salvatore Bertino (Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.), Marta Bianchi (Neurology Unit, ASST Valcamonica, Esine, Italy.), Simona Cascino (Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.), Denise Cerne (Department of Neuroscience, University of Genoa, Genoa, Italy.), Elena Contaldi (Department of Translational Medicine, Movement Disorders Centre, Neurology Unit, University of Eastern Piedmont, Novara, Italy.), Rosa Maria Converti (IRCCS Don Gnocchi Foundation, Milan, Italy.), Tiziana De Santis (Department of Neurology, IRCCS Humanitas Research Hospital, Rozzano, Italy.), Grazia Devigili (Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.), Alberto Doretti (Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.), Michela Fanzecco (University of Cagliari, Cagliari, Italy.), Nicoletta Manzo (Neurology Unit, Presidio Ospedaliero San Filippo Neri, Rome, Italy.), Lucio Marinelli (Department of Neuroscience, University of Genoa, Genoa, Italy.), Sonia Mazzucchi (Centro Clinico Parkinson e Disordini del Movimento, Pisa University Hospital, Pisa, Italy.), Salvatore Misceo (Section of Neurology, San Paolo Hospital, Bari, Italy.), Nicola Modugno (IRCCS Neuromed Institute, Pozzilli, Italy.), Martina Petracca (Movement Disorders Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.), Andrea Rasera (Department of Neurosciences, Biomedicine and Movement Sciences, Neurology Unit, University of Verona, Verona, Italy.), Sara Scannapieco (Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.), Nicola Tambasco (Neurology Unit, University Hospital of Perugia, Perugia, Italy.), Denise Tedeschi (Center for Botulinum Toxin Therapy, Neurologic Unit, Mater Domini University Hospital, Catanzaro, Italy.), Elisa Unti (Centro Clinico Parkinson e Disordini del Movimento, Pisa University Hospital, Pisa, Italy.), Francesca Valentino (Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.).

      • Contributors Conceptualisation: VV, GD. Data curation and investigation: all authors. Formal analysis and original draft preparation: VV, AB, GD. Review and editing: all authors. Study supervision: GD. VV and GD are responsible for the overall content as guarantors.

      • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

      • Competing interests None declared.

      • Provenance and peer review Not commissioned; externally peer reviewed.