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J Neurol. 2016 Apr;263(4):781-3. doi: 10.1007/s00415-016-8066-7. Epub 2016 Feb 25.

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

Author information

1
Department of SBMC, Sapienza University Rome, Rome, Italy. leonardi.luca89@gmail.com.
2
IRCCS "G.B. Bietti" Foundation, Neurophysiology of Vision and Neurophthalmology Unit, Rome, Italy.
3
Department of SBMC, Sapienza University Rome, Rome, Italy.
4
Molecular Medicine, IRCCS Stella Maris, Pisa, Italy.
5
IRCCS-Neuromed, Pozzilli, IS, Italy.

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.

KEYWORDS:

CYP2U1; HSPs; Pigmentary degenerative maculopathy; SPG56

PMID:
26914923
DOI:
10.1007/s00415-016-8066-7
[Indexed for MEDLINE]

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