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Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases

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Abstract

Progressive ataxia and palatal tremor (PAPT) and anti-IgLON5 disease share possible clinical presentations. Furthermore, both have been associated to a tauopathy mainly affecting the brainstem. Nonetheless, anti-IgLON5 antibodies have never been tested in PAPT. We report on two PAPT cases without evidence of anti-IgLON5 antibodies in both CSF and serum. Despite common clinical and pathological characteristics, PAPT and IgLON5 disease are two distinct entities.

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Data and videos used in the present paper are available from the corresponding author on reasonable request

References

  1. Gao AF, Faust-Socher A, Al-Murshed M, Del Bigio MR, Lang AE, Munoz DG. Progressive ataxia and palatal tremor: two autopsy cases of a novel tauopathy. Mov Disord. 2017;32(10):1465–73.

    Article  CAS  PubMed  Google Scholar 

  2. Mari Z, Halls AJM, Vortmeyer A, et al. Clinico-pathological correlation in progressive ataxia and palatal tremor: a novel tauopathy. Mov Disord Clin Pract. 2014;1(1):50–6.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Tezuka T, Takahata K, Tagai K, et al. Progressive ataxia and palatal tremor showing characteristic tau deposition in [18F]PM-PBB3 PET. Mov Disord. 2022;37(6):1317–9.

    Article  PubMed  Google Scholar 

  4. Gaig C, Graus F, Compta Y, et al. Clinical manifestations of the anti-IgLON5 disease. Neurology. 2017;88(18):1736–43.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Gaig C, Compta Y, Heidbreder A, et al. Frequency and characterization of movement disorders in anti-IgLON5 disease. Neurology. 2021;97(14):e1367–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Morales-Briceno H, Cruse B, Fois AF, et al. IgLON5-mediated neu-rodegeneration is a differential diagnosis of CNS Whipple disease. Neurology. 2018;90(24):1113–5.

    Article  PubMed  Google Scholar 

  7. Asioli GM, Calandra-Buonaura G, Mastrangelo V, et al. Persistence of facio-skeletal myorhythmia during sleep in anti-IgLON5 disease. Mov Disord Clin Pract. 2021;8(3):460–3.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Gurram S, Holla VV, Kamath SD, et al. Facio-lingual-palatal myorhythmic presentation of anti-IgLON5 disease. Mov Disord Clin Pract. 2023;10(9):1427–9.

    Article  PubMed  Google Scholar 

  9. Gelpi E, Höftberger R, Graus F, et al. Neuropathological criteria of anti-IgLON5-related tauopathy. Acta Neuropathol. 2016;132(4):531–43.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Giannoccaro MP, Gastaldi M, Rizzo G, et al. Antibodies to neuronal surface antigens in patients with a clinical diagnosis of neurodegenerative disorder. Brain Behav Immun. 2021;96:106–12.

    Article  CAS  PubMed  Google Scholar 

  11. Samuel M, Torun N, Tuite PJ, Sharpe JA, Lang AE. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors. Brain. 2004;127(Pt 6):1252–68.

    Article  PubMed  Google Scholar 

  12. Scheller Nissen M, Blaabjerg M. Anti-IgLON5 disease: a case with 11-year clinical course and review of the literature. Front Neurol. 2019;10:1056.

    Article  Google Scholar 

  13. Sabater L, Gaig C, Gelpi E, et al. A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterization of the antigen, and post-mortem study. Lancet Neurol. 2014;13(6):575–86.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Erro ME, Sabater L, Martínez L, et al. Anti-IgLON5 disease: a new case without neuropathologic evidence of brainstem tauopathy. Neurol Neuroimmunol Neuroinflamm. 2019;7(2):e651.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Berger-Sieczkowski E, Endmayr V, Haider C, et al. Analysis of inflammatory markers and tau deposits in an autopsy series of nine patients with anti-IgLON5 disease. Acta Neuropathol. 2023;146(4):631–45.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank the patients and their families for consent to publication.

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Authors and Affiliations

  1. Department of Biomedical and Neuromotor Sciences, University of Bologna (DIBINEM), Bologna, Italy

    Andrea Mastrangelo, Maria Pia Giannoccaro, Felice Di Laudo & Rocco Liguori

  2. IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy

    Maria Pia Giannoccaro, Vincenzo Donadio, Fortuna Ricciardiello, Rocco Liguori & Giovanni Rizzo

  3. IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Ospedale Bellaria, Via Altura 1/8, 40139, Bologna, Italy

    Flavia Palombo

Authors
  1. Andrea Mastrangelo
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  2. Maria Pia Giannoccaro
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  3. Vincenzo Donadio
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  4. Fortuna Ricciardiello
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  5. Felice Di Laudo
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  6. Flavia Palombo
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  7. Rocco Liguori
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  8. Giovanni Rizzo
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Contributions

All authors contributed to the study conception and design. Material preparation was performed by Andrea Mastrangelo and Giovanni Rizzo. The first draft of the manuscript was

written by Andrea Mastrangelo. Giovanni Rizzo critically reviewed the work, and all authors commented on previous versions of the manuscript. All authors read and approved the final version of the manuscript.

Corresponding author

Correspondence to Giovanni Rizzo.

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Ethics Approval and Consent to Participate

The authors confirm that the approval of an institutional review board was not required for this work. Patients gave written informed consent for the video recording and for the publication of the case report. The authors confirm that they have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines.

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The authors declare no competing interests.

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Mastrangelo, A., Giannoccaro, M.P., Donadio, V. et al. Progressive Ataxia and Palatal Tremor Is Not Associated with IgLON5 Antibodies: Results From Two Cases. Cerebellum (2023). https://doi.org/10.1007/s12311-023-01647-w

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  • DOI: https://doi.org/10.1007/s12311-023-01647-w

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