Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene

被引：37

作者：

Gellera, C

Pareyson, D

Castellotti, B

Mazzucchelli, F

Zappacosta, B

Pandolfo, M

DiDonato, S

机构：

[1] IST NAZL NEUROL C BESTA,DEPT BIOCHEM & GENET,I-20133 MILAN,ITALY

[2] IST NAZL NEUROL C BESTA,DEPT NEUROL,I-20133 MILAN,ITALY

[3] CTR RECH LOUIS CHARLES SIMARD,MONTREAL,PQ,CANADA

来源：

NEUROLOGY | 1997年 / 49卷 / 04期

关键词：

D O I：

10.1212/WNL.49.4.1153

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Molecular analysis of spinocerebellar ataxias revealed a pathologic GAA expansion in the gene encoding frataxin in six adult patients from three families. These patients, carrying expanded alleles in the low-range size, had an exceptionally late onset and lacked cardiomyopathy, pointing to phenotypic variability of Friedreich's ataxia. Both mitotic and gametic instability of the expanded triplet repeat were present in these families.

引用

页码：1153 / 1155

页数：3

共 9 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] The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase
Carvajal, JJ
Pook, MA
dosSantos, M
Doudney, K
Hillermann, R
Minogue, S
Williamson, R
Hsuan, JJ
Chamberlain, S
[J]. NATURE GENETICS, 1996, 14 (02) : 157 - 162
[3] MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9
CHAMBERLAIN, S
SHAW, J
ROWLAND, A
WALLIS, J
SOUTH, S
NAKAMURA, Y
VONGABAIN, A
FARRALL, M
WILLIAMSON, R
[J]. NATURE, 1988, 334 (6179) : 248 - 250
[4] LATE-ONSET FRIEDREICHS-DISEASE - CLINICAL-FEATURES AND MAPPING OF MUTATION TO THE FRDA LOCUS
DEMICHELE, G
FILLA, A
CAVALCANTI, F
DIMAIO, L
PIANESE, L
CASTALDO, I
CALABRESE, O
MONTICELLI, A
VARRONE, S
CAMPANELLA, G
LEONE, M
PANDOLFO, M
COCOZZA, S
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1994, 57 (08) : 977 - 979
[5] LATE ONSET RECESSIVE ATAXIA WITH FRIEDREICHS DISEASE PHENOTYPE
DEMICHELE, G
FILLA, A
BARBIERI, F
PERRETTI, A
SANTORO, L
TROMBETTA, L
SANTORELLI, F
CAMPANELLA, G
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1989, 52 (12) : 1398 - 1401
[6] Clinical and genetic abnormalities in patients with Friedreich's ataxia
Durr, A
Cossee, M
Agid, Y
Campuzano, V
Mignard, C
Penet, C
Mandel, JL
Brice, A
Koenig, M
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (16) : 1169 - 1175
[7] Filla A, 1996, AM J HUM GENET, V59, P554
[8] Harding A.E., 1984, HEREDITARY ATAXIAS R
[9] LATE-ONSET FRIEDREICH ATAXIA - MOLECULAR-GENETICS, CLINICAL NEUROPHYSIOLOGY, AND MAGNETIC-RESONANCE-IMAGING
KLOCKGETHER, T
CHAMBERLAIN, S
WULLNER, U
FETTER, M
DITTMANN, H
PETERSEN, D
DICHGANS, J
[J]. ARCHIVES OF NEUROLOGY, 1993, 50 (08) : 803 - 806

← 1 →