Refractory epilepsy in Norrie disease
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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 . 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) , 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 . In the inner ear, it is thought to regulate vascular maintenance since hearing is normal in early...
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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.
- 1.Sims KB. NDP-related retinopathies. In: Pagon RA, Adam MP, Ardinger HH, et al, editors. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. 1999 Jul 30 [updated 2014 Sep 18]Google Scholar
- 4.Lev D, Weigl Y, Hasan M, Gak E, Davidovich M, Vinkler C, Leshinsky-Silver E, Lerman-Sagie T, Watemberg N (2007) A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms. Am J Med Genet Part A 143A:921–924CrossRefPubMedGoogle Scholar
- 5.Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T (2001) Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier. Am J Med Genet 100:52–55CrossRefPubMedGoogle Scholar