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Neurological Sciences

, Volume 39, Issue 9, pp 1631–1633 | Cite as

Refractory epilepsy in Norrie disease

  • Gonçalo Cação
  • Cristina Garrido
  • Vasco Miranda
  • Jorge Pinto-Basto
  • João Chaves
  • Rui Chorão
Letter to the Editor
  • 92 Downloads

Dear Professor Federico,

Norrie disease is a NDP-related retinopathy characterized by congenital blindness with progressive loss of hearing and neurological features first reported by Gordon Norrie in 1927 [1]. Its gene mutation has been recently described and helped to define a large spectrum of phenotypic manifestations. The diagnosis relies on a combination of clinical findings and molecular genetic testing, which identifies pathogenic variants in approximately 95% of affected males [1, 2, 3]. Norrie disease is an X-linked recessive disorder resulting from a disruption of the NDP gene (Xp11.4) [2], which encodes the protein norrin. This is a secreted protein with a cysteine-knot motif that acts as a ligand in the WNT receptor-b-catenin signal transduction pathway, which is thought to regulate retinal angiogenesis and to be required for regression of hyaloid vessels in the eye [2]. In the inner ear, it is thought to regulate vascular maintenance since hearing is normal in early...

Notes

Compliance with ethical standards

This article does not contain any studies with human participants or animals performed by any of the authors. Informed consent was obtained from all individual participants included in the study.

Conflict of interest

The authors declare that they have no conflict of interest.

References

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Copyright information

© Springer-Verlag Italia S.r.l., part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neurology Department, Hospital de Santo AntónioCentro Hospitalar do PortoPortoPortugal
  2. 2.Pediatrics Department, Centro Materno Infantil do NorteCentro Hospitalar do PortoPortoPortugal
  3. 3.Ophtalmology Department, Hospital de Santo AntónioCentro Hospitalar do PortoPortoPortugal
  4. 4.CGC GeneticsPortoPortugal
  5. 5.Neurophisiology Departement, Hospital de Santo AntónioCentro Hospitalar do PortoPortoPortugal

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