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Article

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

Journal of neurology - 1 Apr 2016

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

Abstract excerpt

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*)...

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PMID: 26914923
DOI: 10.1007/s00415-016-8066-7

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