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Prevalence of neuromyelitis optica spectrum disorder and phenotype distribution

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Abstract

Neuromyelitis optica spectrum disorder (NMOsd) is a group of demyelinating disorders recently redefined and associated with NMO-IgG/anti-aquaporin 4 antibodies. Because NMOsd is of unknown prevalence worldwide, we conducted a retrospective, cross-sectional study of 850 patients with demyelinating disorders hospitalized in North East Tuscany from 1998 to 2006 to examine the prevalence of NMO and related disorders among unselected consecutive neurological patients with inflammatory CNS diseases and to evaluate the clinical phenotype spectrum of identified cases. Clinical data were updated after at least 2 years of follow-up. An immunofluorescence technique was used to detect NMO-IgG on rat brain tissue. Sera from other 828 neurological patients, 65 non-neurological patients and 50 healthy donors served as controls. The prevalence of NMOsd was 1.5%, with a MS:NMOsd ratio of 42.7. Among 13 NMOsd patients, 77% had long spinal cord lesions, 38% had severe optic neuritis and 23% had brain or brainstem lesions. Only 56% had clinically definite NMO at follow-up. The final EDSS score ranged from 1 to 10, mainly depending on brainstem involvement occurrence. Our findings confirm a low prevalence of NMO and related disorders among demyelinating inflammatory diseases in a Caucasian population. Moreover, this study demonstrates an unexpectedly high prevalence of limited and atypical variants of this disease, not previously documented.

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Abbreviations

NMOsd:

Neuromyelitis optica spectrum disorder

MS:

Multiple sclerosis

LETM:

Longitudinally extensive transverse myelitis

BRON:

Bilateral/recurrent optic neuritis

AQP4:

Aquaporin 4

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Acknowledgments

E.B. is supported by Ente Cassa Di Risparmio di Firenze (grant no. 2007-0752).

Conflict of interest statement

The authors report no conflicts of interest.

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Authors and Affiliations

  1. Department of Neurological and Psychiatric Sciences, Careggi Hospital, Florence, Italy

    Elisa Bizzoco, Francesco Lolli, Anna Maria Repice, Bahia Hakiki, Alessandro Barilaro, Rosanna Taiuti, Gianfranco Siracusa, Maria Pia Amato, Tiziana Biagioli, Silvia Lori, Marco Moretti, Patrizia Nencini, Luca Massacesi & Sabrina Matà

  2. Neurological Unit, Hospital of Prato, Prato, Italy

    Mario Falcini & Annalisa Vinattieri

  3. Department of Neurology, University of Florence, Viale Morgagni 85, 50134, Florence, Italy

    Sabrina Matà

Authors
  1. Elisa Bizzoco
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  2. Francesco Lolli
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  3. Anna Maria Repice
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  4. Bahia Hakiki
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  11. Silvia Lori
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  12. Marco Moretti
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  14. Patrizia Nencini
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  15. Luca Massacesi
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  16. Sabrina Matà
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Corresponding author

Correspondence to Sabrina Matà.

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Bizzoco, E., Lolli, F., Repice, A.M. et al. Prevalence of neuromyelitis optica spectrum disorder and phenotype distribution. J Neurol 256, 1891–1898 (2009). https://doi.org/10.1007/s00415-009-5171-x

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  • DOI: https://doi.org/10.1007/s00415-009-5171-x

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