Friedreich's Ataxia: A New Mutation in Two Compound Heterozygous Siblings with Unusual Clinical Onset

被引：6

作者：

Lamba, Laura Doria ^{[1
]}

Ciotti, Paola ^{[3
]}

Giribaldi, Gaia

Di Maria, Emilio ^{[3
]}

Varese, Alessandra ^{[3
]}

Di Stadio, Mauro ^{[2
]}

Schenone, Angelo ^{[4
]}

Mandich, Paola ^{[3
]}

Bellone, Emilia ^{[3
]}

机构：

[1] Univ Genoa, Ist Giannina Gaslini, Div Neuropsichiatria Infantile, Dept Neurosci Ophthalmol & Genet,Pediat Neuropsyc, IT-16100 Genoa, Italy

[2] G Gaslini Inst Children, Operat Unit Orthoped, Genoa, Italy

[3] San Martino Hosp, Genet Operat Unit, Genoa, Italy

[4] San Martino Hosp, Neurol Operat Unit, Genoa, Italy

来源：

EUROPEAN NEUROLOGY | 2009年 / 61卷 / 04期

关键词：

POINT MUTATIONS; PHENOTYPE; DELETION; DISEASE; CHOREA;

D O I：

10.1159/000198417

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：240 / 243

页数：4

共 25 条

[1] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
Campuzano, V
Montermini, L
Molto, MD
Pianese, L
Cossee, M
Cavalcanti, F
Monros, E
Rodius, F
Duclos, F
Monticelli, A
Zara, F
Canizares, J
Koutnikova, H
Bidichandani, SI
Gellera, C
Brice, A
Trouillas, P
DeMichele, G
Filla, A
DeFrutos, R
Palau, F
Patel, PI
DiDonato, S
Mandel, JL
Cocozza, S
Koenig, M
Pandolfo, M
[J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427
[2] Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
Campuzano, V
Montermini, L
Lutz, Y
Cova, L
Hindelang, C
Jiralerspong, S
Trottier, Y
Kish, SJ
Faucheux, B
Trouillas, P
Authier, FJ
Durr, A
Mandel, JL
Vescovi, A
Pandolfo, M
Koenig, M
[J]. HUMAN MOLECULAR GENETICS, 1997, 6 (11) : 1771 - 1780
[3] FRIEDREICHS ATAXIA - ELECTRO-PHYSIOLOGICAL AND HISTOLOGICAL-FINDINGS
CARUSO, G
SANTORO, L
PERRETTI, A
SERLENGA, L
CRISCI, C
RAGNO, M
BARBIERI, F
FILLA, A
[J]. ACTA NEUROLOGICA SCANDINAVICA, 1983, 67 (01): : 26 - 40
[4] Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia
Ciotti, P
Di Maria, E
Bellone, E
Ajmar, F
Mandich, P
[J]. JOURNAL OF MOLECULAR DIAGNOSTICS, 2004, 6 (04) : 285 - 289
[5] Cossée M, 1999, ANN NEUROL, V45, P200, DOI 10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO
[6] 2-U
[7] Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients
De Castro, M
García-Planells, J
Monrós, E
Cañizares, J
Vázquez-Manrique, R
Vílchez, JJ
Urtasun, M
Lucas, M
Navarro, G
Izquierdo, G
Moltó, MD
Palau, F
[J]. HUMAN GENETICS, 2000, 106 (01) : 86 - 92
[8] Delatycki MB, 1999, AM J MED GENET, V87, P168, DOI 10.1002/(SICI)1096-8628(19991119)87:2<168::AID-AJMG8>3.0.CO
[9] 2-2
[10] Friedreich ataxia: an overview
Delatycki, MB
Williamson, R
Forrest, SM
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (01) : 1 - 8

← 1 2 3 →