title: Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.
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.
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy. leonardi.luca89@gmail.com.
authors.forename: Luca
authors.initials: L
authors.lastname: Leonardi
authors.affiliation: IRCCS "G.B. Bietti" Foundation, Neurophysiology of Vision and Neurophthalmology Unit, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Ziccardi
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy.
authors.forename: Christian
authors.initials: C
authors.lastname: Marcotulli
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Rubegni
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Longobardi
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy.
authors.forename: Mariano
authors.initials: M
authors.lastname: Serrao
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Storti
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy.|IRCCS-Neuromed, Pozzilli, IS, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pierelli
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.affiliation: IRCCS "G.B. Bietti" Foundation, Neurophysiology of Vision and Neurophthalmology Unit, Rome, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Parisi
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: Department of SBMC, Sapienza University Rome, Rome, Italy.
authors.forename: Casali
authors.initials: C
authors.lastname: Carlo
mesh_terms: D000328:Adult; D000072467:Cytochrome P450 Family 2 / Q000235:genetics*; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007558:Italy; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000235:genetics; D041623:Tomography, Optical Coherence
chemical_list: C484320:CYP2U1 protein, human; D000072467:Cytochrome P450 Family 2
keywords: CYP2U1; HSPs; Pigmentary degenerative maculopathy; SPG56