Journal article
Total and regional white matter lesions are correlated with motor and cognitive impairments in carriers of the FMR1 premutation
DR Hocking, DZ Loesch, N Trost, MQ Bui, E Hammersley, D Francis, F Tassone, E Storey
Frontiers in Neurology | FRONTIERS MEDIA SA | Published : 2019
Abstract
This study explores the relationships between hemispheric and cerebellar white matter lesions and motor and cognitive impairments in male carriers of Fragile-X Mental Retardation 1 (FMR1) premutation alleles, and in a subgroup of these carriers affected with Fragile X-Associated Tremor/Ataxia syndrome (FXTAS). Regional and total white matter hyperintensities (wmhs) on MRI, assessed using semiquantitative scores, were correlated with three motor rating scales (ICARS, UPDRS, Tremor), and neuropsychological measures of non-verbal reasoning, working memory and processing speed, in a sample of 30 male premutation carriers aged 39-81 years, and separately in a subsample of 17 of these carriers aff..
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Awarded by National Institute of Child Health and Human Development
Funding Acknowledgements
This study was supported by the National Institute of Child Health and Human Development Grant, US, No. HD 36071, to DL and FT.