COGNITIVE AND MOLECULAR ASPECTS OF FRAGILE-X

被引:14
作者
HINTON, VJ
HALPERIN, JM
DOBKIN, CS
DING, XH
BROWN, WT
MIEZEJESKI, CM
机构
[1] CUNY,QUEENS COLL,NEW YORK,NY 10021
[2] CUNY,GRAD SCH,NEW YORK,NY 10021
[3] CSI IBR CTR DEV NEUROSCI,NEW YORK,NY
[4] MT SINAI SCH MED,NEW YORK,NY
[5] NEW YORK STATE INST BASIC RES DEV DISABIL,STATEN ISL,NY
关键词
D O I
10.1080/01688639508405142
中图分类号
B849 [应用心理学];
学科分类号
040203 ;
摘要
The relationships among pal ental origin of the fragile X gene, gene structure, and specific cognitive deficits were evaluated in nonretarded adult female fragile X carriers to determine whether: (1) origin influences gene structure and cognitive function, (2) mild cognitive impairments are associated with altered gene structure, and (3) specific cognitive domains are affected. Results indicated that 56% of women with maternally inherited, but none with paternally inherited, fragile X showed large genomic structural alterations and selective deficits on measures of visual attention. Thus, molecular status of the fragile X gene appears to be linked to parental origin and may selectively affect specific cognitive skills.
引用
收藏
页码:518 / 528
页数:11
相关论文
共 37 条
[1]   NUCLEUS BASALIS MAGNOCELLULARIS AND HIPPOCAMPUS ARE THE MAJOR SITES OF FMR-1 EXPRESSION IN THE HUMAN FETAL BRAIN [J].
ABITBOL, M ;
MENINI, C ;
DELEZOIDE, AL ;
RHYNER, T ;
VEKEMANS, M ;
MALLET, J .
NATURE GENETICS, 1993, 4 (02) :147-153
[2]   PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME [J].
BELL, MV ;
HIRST, MC ;
NAKAHORI, Y ;
MACKINNON, RN ;
ROCHE, A ;
FLINT, TJ ;
JACOBS, PA ;
TOMMERUP, N ;
TRANEBJAERG, L ;
FROSTERISKENIUS, U ;
KERR, B ;
TURNER, G ;
LINDENBAUM, RH ;
WINTER, R ;
PEMBREY, M ;
THIBODEAU, S ;
DAVIES, KE .
CELL, 1991, 64 (04) :861-866
[3]  
Benton A. L., 1994, CONTRIBUTIONS NEUROP
[4]  
Benton AL, 1974, REVISED VISUAL RETEN
[5]   CYCLIC-AMP METABOLISM IN FRAGILE-X SYNDROME [J].
BERRYKRAVIS, E ;
HUTTENLOCHER, PR .
ANNALS OF NEUROLOGY, 1992, 31 (01) :22-26
[6]   HYPOPLASIA OF CEREBELLAR VERMAL LOBULE-VI AND LOBULE-VII IN AUTISM [J].
COURCHESNE, E ;
YEUNGCOURCHESNE, R ;
PRESS, GA ;
HESSELINK, JR ;
JERNIGAN, TL .
NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (21) :1349-1354
[7]   COGNITIVE PROFILES ASSOCIATED WITH THE FRA(X) SYNDROME IN MALES AND FEMALES [J].
FREUND, LS ;
REISS, AL .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04) :542-547
[8]   VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].
FU, YH ;
KUHL, DPA ;
PIZZUTI, A ;
PIERETTI, M ;
SUTCLIFFE, JS ;
RICHARDS, S ;
VERKERK, AJMH ;
HOLDEN, JJA ;
FENWICK, RG ;
WARREN, ST ;
OOSTRA, BA ;
NELSON, DL ;
CASKEY, CT .
CELL, 1991, 67 (06) :1047-1058
[9]   ISOLATION OF SEQUENCES THAT SPAN THE FRAGILE-X AND IDENTIFICATION OF A FRAGILE-X RELATED CPG ISLAND [J].
HEITZ, D ;
ROUSSEAU, F ;
DEVYS, D ;
SACCONE, S ;
ABDERRAHIM, H ;
LEPASLIER, D ;
COHEN, D ;
VINCENT, A ;
TONIOLO, D ;
DELLAVALLE, G ;
JOHNSON, S ;
SCHLESSINGER, D ;
OBERLE, I ;
MANDEL, JL .
SCIENCE, 1991, 251 (4998) :1236-1239
[10]   TISSUE SPECIFIC EXPRESSION OF FMR-1 PROVIDES EVIDENCE FOR A FUNCTIONAL-ROLE IN FRAGILE-X SYNDROME [J].
HINDS, HL ;
ASHLEY, CT ;
SUTCLIFFE, JS ;
NELSON, DL ;
WARREN, ST ;
HOUSMAN, DE ;
SCHALLING, M .
NATURE GENETICS, 1993, 3 (01) :36-43