Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs

Spinocerebellar ataxia type 1 (SCA-ATXN1) is an autosomal dominant, neurodegenerative disease, caused by CAG repeat expansion in the ataxin-1 gene (<i>ATXN1</i>). In isolated reports of patients with neurological signs [symptomatic patients (SP)], macular abnormalities have been describe...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Lucia Ziccardi, Ettore Cioffi, Lucilla Barbano, Valeria Gioiosa, Benedetto Falsini, Carlo Casali, Vincenzo Parisi
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	spinocerebellar ataxia type 1 multifocal electroretinogram macular function Sd-OCT macular degeneration visual pathways Medicine R
Acceso en línea:	https://doaj.org/article/7ac5b2c52410495f83c6c5145446f306
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:7ac5b2c52410495f83c6c5145446f306
record_format	dspace
spelling	oai:doaj.org-article:7ac5b2c52410495f83c6c5145446f3062021-11-25T18:01:09ZMacular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs10.3390/jcm102252712077-0383https://doaj.org/article/7ac5b2c52410495f83c6c5145446f3062021-11-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/22/5271https://doaj.org/toc/2077-0383Spinocerebellar ataxia type 1 (SCA-ATXN1) is an autosomal dominant, neurodegenerative disease, caused by CAG repeat expansion in the ataxin-1 gene (<i>ATXN1</i>). In isolated reports of patients with neurological signs [symptomatic patients (SP)], macular abnormalities have been described. However, no reports exist about macular anomalies in SCA1 subjects carrying the <i>ATXN1</i> mutation without neurological signs [not symptomatic carriers (NSC)]. Therefore, the main aim of our work was to evaluate whether the macular functional and morphological abnormalities could be detectable in SP, genetically confirmed and with neurological signs, as well as in SCA-ATXN1-NSC, harboring pathogenic CAG expansion in <i>ATXN1.</i> In addition, we investigated whether the macular involvement could be associated or not to an impairment of RGCs and of their fibers and of the neural conduction along the visual pathways. Herein, nine SCA-ATXN1 subjects (6 SP and 3 NSC) underwent the following examinations: visual acuity and chromatic test assessments, fundus oculi (FO) examination, macular and peripapillary retinal nerve fiber layer thickness (RNFL-T) analysis by Spectral domain-Optical Coherence Tomography (Sd-OCT) acquisition, multifocal electroretinogram (mfERG), pattern reversal electroretinogram (PERG) and visual evoked potentials (VEP) recordings. In four eyes of two SP, visual acuity reduction and chromatic abnormalities were observed; in three of them FO changes associated with macular thinning and outer retinal defects were also detected. In three NSC eyes, slight FO abnormalities were associated with qualitative macular morphological changes. By contrast, abnormal mfERG responses (exclusively from foveal and parafoveal areas) were detected in all SP and NSC (18 eyes). No abnormalities of PERG values, RNFL-T, and VEP responses were found, but in one SP, presenting abnormal papillo-macular bundle neural conduction. Results from our SCA-ATXN1 cohort suggest that a macular dysfunction, detectable by mfERG recordings, may occur in the overt disorder, and unexpectedly in the stage of the disease in which there is still an absence of neurological signs. In NSC, an exclusive dysfunction of preganglionic macular elements can be observed, and this is associated with both normal RGCs function and neural conduction along the visual pathways.Lucia ZiccardiEttore CioffiLucilla BarbanoValeria GioiosaBenedetto FalsiniCarlo CasaliVincenzo ParisiMDPI AGarticlespinocerebellar ataxia type 1multifocal electroretinogrammacular functionSd-OCTmacular degenerationvisual pathwaysMedicineRENJournal of Clinical Medicine, Vol 10, Iss 5271, p 5271 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	spinocerebellar ataxia type 1 multifocal electroretinogram macular function Sd-OCT macular degeneration visual pathways Medicine R
spellingShingle	spinocerebellar ataxia type 1 multifocal electroretinogram macular function Sd-OCT macular degeneration visual pathways Medicine R Lucia Ziccardi Ettore Cioffi Lucilla Barbano Valeria Gioiosa Benedetto Falsini Carlo Casali Vincenzo Parisi Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
description	Spinocerebellar ataxia type 1 (SCA-ATXN1) is an autosomal dominant, neurodegenerative disease, caused by CAG repeat expansion in the ataxin-1 gene (<i>ATXN1</i>). In isolated reports of patients with neurological signs [symptomatic patients (SP)], macular abnormalities have been described. However, no reports exist about macular anomalies in SCA1 subjects carrying the <i>ATXN1</i> mutation without neurological signs [not symptomatic carriers (NSC)]. Therefore, the main aim of our work was to evaluate whether the macular functional and morphological abnormalities could be detectable in SP, genetically confirmed and with neurological signs, as well as in SCA-ATXN1-NSC, harboring pathogenic CAG expansion in <i>ATXN1.</i> In addition, we investigated whether the macular involvement could be associated or not to an impairment of RGCs and of their fibers and of the neural conduction along the visual pathways. Herein, nine SCA-ATXN1 subjects (6 SP and 3 NSC) underwent the following examinations: visual acuity and chromatic test assessments, fundus oculi (FO) examination, macular and peripapillary retinal nerve fiber layer thickness (RNFL-T) analysis by Spectral domain-Optical Coherence Tomography (Sd-OCT) acquisition, multifocal electroretinogram (mfERG), pattern reversal electroretinogram (PERG) and visual evoked potentials (VEP) recordings. In four eyes of two SP, visual acuity reduction and chromatic abnormalities were observed; in three of them FO changes associated with macular thinning and outer retinal defects were also detected. In three NSC eyes, slight FO abnormalities were associated with qualitative macular morphological changes. By contrast, abnormal mfERG responses (exclusively from foveal and parafoveal areas) were detected in all SP and NSC (18 eyes). No abnormalities of PERG values, RNFL-T, and VEP responses were found, but in one SP, presenting abnormal papillo-macular bundle neural conduction. Results from our SCA-ATXN1 cohort suggest that a macular dysfunction, detectable by mfERG recordings, may occur in the overt disorder, and unexpectedly in the stage of the disease in which there is still an absence of neurological signs. In NSC, an exclusive dysfunction of preganglionic macular elements can be observed, and this is associated with both normal RGCs function and neural conduction along the visual pathways.
format	article
author	Lucia Ziccardi Ettore Cioffi Lucilla Barbano Valeria Gioiosa Benedetto Falsini Carlo Casali Vincenzo Parisi
author_facet	Lucia Ziccardi Ettore Cioffi Lucilla Barbano Valeria Gioiosa Benedetto Falsini Carlo Casali Vincenzo Parisi
author_sort	Lucia Ziccardi
title	Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
title_short	Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
title_full	Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
title_fullStr	Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
title_full_unstemmed	Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs
title_sort	macular morpho-functional and visual pathways functional assessment in patients with spinocerebellar type 1 ataxia with or without neurological signs
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/7ac5b2c52410495f83c6c5145446f306
work_keys_str_mv	AT luciaziccardi macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT ettorecioffi macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT lucillabarbano macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT valeriagioiosa macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT benedettofalsini macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT carlocasali macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns AT vincenzoparisi macularmorphofunctionalandvisualpathwaysfunctionalassessmentinpatientswithspinocerebellartype1ataxiawithorwithoutneurologicalsigns
_version_	1718411753103032320

Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs

Ejemplares similares