Early visual function impairment in CADASIL

被引：30

作者：

Parisi, V

Pierelli, F

Fattapposta, F

Bianco, F

Parisi, L

Restuccia, R

Malandrini, A

Ferrari, M

Carrera, P

机构：

[1] Univ Roma Tor Vergata, Cattedra Clin Oculist, I-00199 Rome, Italy

[2] Osped Fatebenefratelli, Div Oculist, Fdn Loftalmol GB Bietti, AfaR IRCCS,Isola Tiberina, Rome, Italy

[3] IRCCS Neuromed, Pozzilli, Italy

[4] Univ Roma La Sapienza, Dipartimento Neurol Clin & Otorinolaringoiatria, Rome, Italy

[5] Univ Siena, Ist Sci Neurol, I-53100 Siena, Italy

[6] Diagnost & Ric San Raffaele SpA, Milan, Italy

[7] Osped San Raffaele, IRCCS, Lab Genom Diagnost Patol Umane, Milan, Italy

来源：

NEUROLOGY | 2003年 / 60卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000070411.13217.7E

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

收藏

页码：2008 / 2010

页数：3

相关论文

共 9 条

[1] AUTOSOMAL DOMINANT LEUKOENCEPHALOPATHY AND SUBCORTICAL ISCHEMIC STROKE - A CLINICOPATHOLOGICAL STUDY [J].

BAUDRIMONT, M ;

DUBAS, F ;

JOUTEL, A ;

TOURNIERLASSERVE, E ;

BOUSSER, MG .

STROKE, 1993, 24 (01) :122-125

[2] Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients [J].

Joutel, A ;

Vahedi, K ;

Corpechot, C ;

Troesch, A ;

Chabriat, H ;

Vayssiere, C ;

Cruaud, C ;

Maciazek, J ;

Weissenbach, J ;

Bousser, MG ;

Bach, JF ;

TournierLasserve, E .

LANCET, 1997, 350 (9090) :1511-1515

[3] TRIS(DICHLOROPROPYL)PHOSPHATE, A MUTAGENIC FLAME-RETARDANT - FREQUENT OCCURRENCE IN HUMAN SEMINAL PLASMA [J].

HUDEC, T ;

THEAN, J ;

KUEHL, D ;

DOUGHERTY, RC .

SCIENCE, 1981, 211 (4485) :951-952

[4] Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy [J].

Malandrini, A ;

Carrera, P ;

Palmeri, S ;

Cavallaro, T ;

Fabrizi, GM ;

Villanova, M ;

Fattapposta, M ;

Vismara, L ;

Brancolini, V ;

Tanganelli, P ;

Cali, A ;

Morocutti, C ;

Zeviani, M ;

Ferrari, M ;

Guazzi, GC .

ACTA NEUROPATHOLOGICA, 1996, 92 (02) :115-122

[5] Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL [J].

Malandrini, A ;

Albani, F ;

Palmeri, S ;

Fattapposta, F ;

Gambelli, S ;

Berti, G ;

Bracco, A ;

Tammaro, A ;

Calzavara, S ;

Villanova, M ;

Ferrari, M ;

Rossi, A ;

Carrera, P .

NEUROLOGY, 2002, 59 (04) :617-620

[6] Morphological and functional retinal impairment in Alzheimer's disease patients [J].

Parisi, V ;

Restuccia, R ;

Fattapposta, F ;

Mina, C ;

Bucci, MG ;

Pierelli, F .

CLINICAL NEUROPHYSIOLOGY, 2001, 112 (10) :1860-1867

[7] Visual electrophysiological responses in subjects with cerebral autosomal arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) [J].

Parisi, V ;

Pierelli, F ;

Malandrini, A ;

Carrera, P ;

Olzi, D ;

Gregori, D ;

Restuccia, R ;

Parisi, L ;

Fattapposta, F .

CLINICAL NEUROPHYSIOLOGY, 2000, 111 (09) :1582-1588

[8]

SPEROS P, 1982, SURG OPHTHALMOL, V5, P237

[9] CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY MAPS TO CHROMOSOME-19Q12 [J].

TOURNIERLASSERVE, E ;

JOUTEL, A ;

MELKI, J ;

WEISSENBACH, J ;

LATHROP, GM ;

CHABRIAT, H ;

MAS, JL ;

CABANIS, EA ;

BAUDRIMONT, M ;

MACIAZEK, J ;

BACH, MA ;

BOUSSER, MG .

NATURE GENETICS, 1993, 3 (03) :256-259