Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements

被引:27
作者
Shelton, Annie L. [1 ]
Cornish, Kim [1 ]
Kraan, Claudine [1 ]
Georgiou-Karistianis, Nellie [1 ]
Metcalfe, Sylvia A. [2 ,3 ]
Bradshaw, John L. [1 ]
Hocking, Darren R. [9 ]
Archibald, Alison D. [2 ,3 ,4 ]
Cohen, Jonathan [2 ,5 ,6 ]
Trollor, Julian N. [7 ,8 ]
Fielding, Joanne [1 ]
机构
[1] Monash Univ, Fac Med Nursing & Hlth Sci, Sch Psychiat & Psychol, Clayton, Vic 3800, Australia
[2] Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
[3] Univ Melbourne, Dept Paediat, Fac Med Dent & Hlth Sci, Parkville, Vic 3025, Australia
[4] Victorian Clin Genet Serv, Parkville, Vic 3052, Australia
[5] Monash Univ, Ctr Dev Disabil Hlth Victoria, Clayton, Vic 3800, Australia
[6] Fragile X Alliance Inc, Clin & Resource Ctr, North Caulfield, Vic 3161, Australia
[7] Univ New S Wales, Dept Dev Disabil Neuropsychiat, Sydney, NSW 2052, Australia
[8] Univ New S Wales, Ctr Hlth Brain Ageing, Sch Psychiat, Sydney, NSW 2052, Australia
[9] La Trobe Univ, Sch Psychol Sci, Olga Tennison Autism Res Ctr, Bundoora, Vic 3086, Australia
关键词
Saccade; Eye tracking; Premutation carrier; Fragile X syndrome; FXS; FMR1; Response inhibition; TREMOR/ATAXIA SYNDROME; FMR1; PREMUTATION; PROTEIN-LEVELS; WOMEN; ATTENTION; MALES; GENE; MICE;
D O I
10.1016/j.bandc.2013.12.006
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population. (C) 2014 Elsevier Inc. All rights reserved.
引用
收藏
页码:201 / 208
页数:8
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