Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

Luca Leonardi, Lucia Ziccardi, Christian Marcotulli, Anna Rubegni, Antonino Longobardi, Mariano Serrao, Eugenia Storti, Francesco Pierelli, Alessandra Tessa, Vincenzo Parisi, Filippo Maria Santorelli, Casali Carlo

Research output: Contribution to journalArticle

Abstract

SPG56 is an autosomal recessive form of hereditary spastic paraplegia (HSP) associated with mutations in CYP2U1. There is no clear documentation of visual impairment in the few reported cases of SPG56, although this form is complex on clinical ground and visual deficit are extremely frequent in complicated HSP. We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. Furthermore, we characterized precisely the ophthalmologic phenotype through indirect ophthalmoscopy, retinal optical coherence tomography and visual evoked potentials. This is the first formal report of pigmentary degenerative maculopathy associated with a CYP2U1 homozygous mutation.

Original languageEnglish
Pages (from-to)781-783
Number of pages3
JournalJournal of Neurology
Volume263
Issue number4
DOIs
Publication statusPublished - Apr 1 2016

Keywords

  • CYP2U1
  • HSPs
  • Pigmentary degenerative maculopathy
  • SPG56

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    Leonardi, L., Ziccardi, L., Marcotulli, C., Rubegni, A., Longobardi, A., Serrao, M., Storti, E., Pierelli, F., Tessa, A., Parisi, V., Santorelli, F. M., & Carlo, C. (2016). Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family. Journal of Neurology, 263(4), 781-783. https://doi.org/10.1007/s00415-016-8066-7