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Journal of Neurology

, Volume 256, Issue 11, pp 1891–1898 | Cite as

Prevalence of neuromyelitis optica spectrum disorder and phenotype distribution

  • Elisa Bizzoco
  • Francesco Lolli
  • Anna Maria Repice
  • Bahia Hakiki
  • Mario Falcini
  • Alessandro Barilaro
  • Rosanna Taiuti
  • Gianfranco Siracusa
  • Maria Pia Amato
  • Tiziana Biagioli
  • Silvia Lori
  • Marco Moretti
  • Annalisa Vinattieri
  • Patrizia Nencini
  • Luca Massacesi
  • Sabrina Matà
Original Communication

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.

Keywords

Neuromyelitis optica NMO-IgG Prevalence Anti-aquaporin 4 antibodies 

Abbreviations

NMOsd

Neuromyelitis optica spectrum disorder

MS

Multiple sclerosis

LETM

Longitudinally extensive transverse myelitis

BRON

Bilateral/recurrent optic neuritis

AQP4

Aquaporin 4

Notes

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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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Elisa Bizzoco
    • 1
  • Francesco Lolli
    • 1
  • Anna Maria Repice
    • 1
  • Bahia Hakiki
    • 1
  • Mario Falcini
    • 2
  • Alessandro Barilaro
    • 1
  • Rosanna Taiuti
    • 1
  • Gianfranco Siracusa
    • 1
  • Maria Pia Amato
    • 1
  • Tiziana Biagioli
    • 1
  • Silvia Lori
    • 1
  • Marco Moretti
    • 1
  • Annalisa Vinattieri
    • 2
  • Patrizia Nencini
    • 1
  • Luca Massacesi
    • 1
  • Sabrina Matà
    • 1
    • 3
  1. 1.Department of Neurological and Psychiatric SciencesCareggi HospitalFlorenceItaly
  2. 2.Neurological UnitHospital of PratoPratoItaly
  3. 3.Department of NeurologyUniversity of FlorenceFlorenceItaly

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