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 language | English |
|---|---|
| Pages (from-to) | 781-783 |
| Number of pages | 3 |
| Journal | Journal of Neurology |
| Volume | 263 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1 2016 |
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Keywords
- CYP2U1
- HSPs
- Pigmentary degenerative maculopathy
- SPG56
ASJC Scopus subject areas
- Clinical Neurology
- Neurology
Cite this
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family. / 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.
In: Journal of Neurology, Vol. 263, No. 4, 01.04.2016, p. 781-783.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family
AU - Leonardi, Luca
AU - Ziccardi, Lucia
AU - Marcotulli, Christian
AU - Rubegni, Anna
AU - Longobardi, Antonino
AU - Serrao, Mariano
AU - Storti, Eugenia
AU - Pierelli, Francesco
AU - Tessa, Alessandra
AU - Parisi, Vincenzo
AU - Santorelli, Filippo M.
AU - Carlo, Casali
PY - 2016/4/1
Y1 - 2016/4/1
N2 - 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.
AB - 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.
KW - CYP2U1
KW - HSPs
KW - Pigmentary degenerative maculopathy
KW - SPG56
UR - http://www.scopus.com/inward/record.url?scp=84962753609&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84962753609&partnerID=8YFLogxK
U2 - 10.1007/s00415-016-8066-7
DO - 10.1007/s00415-016-8066-7
M3 - Article
VL - 263
SP - 781
EP - 783
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 4
ER -