Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Background:  Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fun...

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Published in:European journal of neurology 2011-09, Vol.18 (9), p.1187-1190
Main Authors: Vingolo, E. M., Di Fabio, R., Salvatore, S., Grieco, G., Bertini, E., Leuzzi, V., Nesti, C., Filla, A., Tessa, A., Pierelli, F., Santorelli, F. M., Casali, C.
Format: Article
Language:English
Subjects:
Adult
ARSACS
Ataxia
Female
Fibers
Humans
Male
Middle Aged
Muscle Spasticity - pathology
Myelination
Nerve Fibers, Myelinated - pathology
Nerves
optical coherence tomography
persistent myelination of the retina
Retina
Retina - pathology
retinal myelination
Spinocerebellar Ataxias - congenital
Spinocerebellar Ataxias - pathology
Tomography
Tomography, Optical Coherence
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container_end_page 1190
container_issue 9
container_start_page 1187
container_title European journal of neurology
container_volume 18
creator Vingolo, E. M.
Di Fabio, R.
Salvatore, S.
Grieco, G.
Bertini, E.
Leuzzi, V.
Nesti, C.
Filla, A.
Tessa, A.
Pierelli, F.
Santorelli, F. M.
Casali, C.
description Background:  Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. Methods:  To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three‐dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non‐progressive anomaly. Results:  Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. Conclusions:  Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.
doi_str_mv 10.1111/j.1468-1331.2010.03335.x
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M. ; Di Fabio, R. ; Salvatore, S. ; Grieco, G. ; Bertini, E. ; Leuzzi, V. ; Nesti, C. ; Filla, A. ; Tessa, A. ; Pierelli, F. ; Santorelli, F. M. ; Casali, C.</creator><creatorcontrib>Vingolo, E. M. ; Di Fabio, R. ; Salvatore, S. ; Grieco, G. ; Bertini, E. ; Leuzzi, V. ; Nesti, C. ; Filla, A. ; Tessa, A. ; Pierelli, F. ; Santorelli, F. M. ; Casali, C.</creatorcontrib><description>Background:  Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. Methods:  To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three‐dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non‐progressive anomaly. Results:  Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. Conclusions:  Myelinated retinal fibers are not rare in Italian patients with ARSACS. 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M.</au><au>Casali, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay</atitle><jtitle>European journal of neurology</jtitle><addtitle>Eur J Neurol</addtitle><date>2011-09</date><risdate>2011</risdate><volume>18</volume><issue>9</issue><spage>1187</spage><epage>1190</epage><pages>1187-1190</pages><issn>1351-5101</issn><eissn>1468-1331</eissn><coden>EJNEFL</coden><notes>ArticleID:ENE3335</notes><notes>ark:/67375/WNG-KR53JMQN-S</notes><notes>istex:D1DBA2112769C08AE1F4B2B65342D997266B4147</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>ObjectType-Article-2</notes><notes>ObjectType-Feature-1</notes><abstract>Background:  Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. Methods:  To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three‐dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non‐progressive anomaly. Results:  Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. Conclusions:  Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>21410841</pmid><doi>10.1111/j.1468-1331.2010.03335.x</doi><tpages>4</tpages></addata></record>
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ispartof European journal of neurology, 2011-09, Vol.18 (9), p.1187-1190
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1468-1331
language eng
recordid cdi_proquest_miscellaneous_907181131
source Wiley
subjects Adult
ARSACS
Ataxia
Female
Fibers
Humans
Male
Middle Aged
Muscle Spasticity - pathology
Myelination
Nerve Fibers, Myelinated - pathology
Nerves
optical coherence tomography
persistent myelination of the retina
Retina
Retina - pathology
retinal myelination
Spinocerebellar Ataxias - congenital
Spinocerebellar Ataxias - pathology
Tomography
Tomography, Optical Coherence
title Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay
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