Abstract The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neural conduction in postretinal visual pathways, whereas in the remaining subjects without genetic mutations, no electrophysiologic abnormalities were found. An early vascular retinal impairment in CADASIL may precede the onset of clinical manifestations.

Early visual function impairment in CADASIL / V., Parisi; Pierelli, Francesco; Fattapposta, Francesco; Bianco, Federico; Parisi, Leoluca; R., Restuccia; A., Malandrini; M., Ferrari; P., Carrera. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 60:12(2003), pp. 2008-2010. [10.1212/01.wnl.0000070411.13217.7e]

Early visual function impairment in CADASIL

PIERELLI, Francesco;FATTAPPOSTA, FRANCESCO;BIANCO, Federico;PARISI, Leoluca;
2003

Abstract

Abstract The authors carried out genetic analyses and visual electrophysiologic evaluations in six asymptomatic sons and daughters of patients with symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Three subjects showed Notch3 Cys146Tyr missense mutation and a dysfunction of the outer, middle, and innermost retinal layers, with normal neural conduction in postretinal visual pathways, whereas in the remaining subjects without genetic mutations, no electrophysiologic abnormalities were found. An early vascular retinal impairment in CADASIL may precede the onset of clinical manifestations.
2003
01 Pubblicazione su rivista::01a Articolo in rivista
Early visual function impairment in CADASIL / V., Parisi; Pierelli, Francesco; Fattapposta, Francesco; Bianco, Federico; Parisi, Leoluca; R., Restuccia; A., Malandrini; M., Ferrari; P., Carrera. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 60:12(2003), pp. 2008-2010. [10.1212/01.wnl.0000070411.13217.7e]
File allegati a questo prodotto
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/249105
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo

Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 34
  • ???jsp.display-item.citation.isi??? 30
social impact