Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation

详细信息    查看全文

• 作者：Claudine M. Kraan^a ; ¹ ; Darren R. Hocking^b ; ¹ ; Nellie Georgiou-Karistianis^a ; Sylvia A. Metcalfe^c ; ^d ; Alison D. Archibald^c ; ^d ; ^e ; Joanne Fielding^a ; Julian Trollor^f ; ^g ; John L. Bradshaw^a ; Jonathan Cohen^c ; ^h ; ⁱ ; Kim M. Cornish^a ; ^{kim.cornish@monash.edu" class="auth_mail}
• 关键词：Fragile X tremor ataxia syndrome (FXTAS) ; Alzheimer's disease ; Fragile X mental retardation gene 1 (FMR1) ; Fragile X mental retardation protein (FMRP) ; Cerebellar motor networks ; Cognitive-motor interference ; Working memory ; Gait variability ; Dual-task paradigm ; Fragile X syndrome
• 刊名：Neurobiology of Aging
• 出版年：September 2014
• 年：2014
• 卷：35
• 期：9
• 页码：2179.e7-2179.e13
• 全文大小：279 K

文摘

Recent studies report a higher risk of dementia and motor symptoms in females with the fragile X mental retardation 1 premutation (PM-carriers) than has hitherto been appreciated. Here, we use dual-task gait paradigms to identify potential markers of cognitive and motor decline in female PM-carriers. Spatiotemporal gait characteristics and variability of gait were assessed during single- and dual-task conditions in 28 female PM-carriers (mean age 41.32 ± 8.03 years) and 31 female controls with normal fragile X mental retardation 1 alleles (mean age 41.61 ± 8.30 years). Despite comparable gait characteristics at baseline, gait performance was significantly poorer for PM-carriers when performing concurrent working memory tasks (counting backwards by 3′s or 7′s) when compared with controls. Correlational analyses showed that low working memory capacity was significantly associated with dual-task interference for the gait domains of pace (speed, step length) and variability (step time, swing time) in PM-carriers. Multiple regression analyses further showed that the interaction between age and CGG repeat length was strongly predictive of gait variability during dual-task performance. These findings indicate for the first time that vulnerability in specific domains of gait control may act as sensitive surrogate markers of future decline in female PM-carriers.