| Autor: |
Stephanie S.G. Brown, Shinjini Basu, Heather C. Whalley, Peter C. Kind, Andrew C. Stanfield |
| Jazyk: |
angličtina |
| Rok vydání: |
2018 |
| Předmět: |
|
| Zdroj: |
NeuroImage: Clinical, Vol 17, Iss , Pp 761-767 (2018) |
| Druh dokumentu: |
article |
| ISSN: |
2213-1582 |
| DOI: |
10.1016/j.nicl.2017.12.016 |
| Popis: |
The FMR1 premutation confers a 40–60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia, as well as cognitive decline that can develop into dementia in some patients. At present, it is not clear whether changes to brain function are detectable in motor regions prior to the onset of frank symptomatology. The present study therefore aimed to utilize an fMRI motor task for the first time in an asymptomatic premutation population.Premutation carriers without a diagnosis of FXTAS (n=17) and a group of healthy male controls (n=17), with an age range of 24–68years old, were recruited for this cross-sectional study. This study utilized neuroimaging, molecular and clinical measurements, employing an fMRI finger-tapping task with a block design consisting of sequential finger-tapping, random finger-tapping and rest conditions. The imaging analysis contrasted the sequential and random conditions to investigate activation changes in response to a change in task demand. Additionally, measurements were obtained of participant tremor, co-ordination and balance using the CATSYS-2000 system and measures of FMR1 mRNA were quantified from peripheral blood samples using quantitative real-time PCR methodology.Premutation carriers demonstrated significantly less cerebellar activation than controls during sequential versus random finger tapping (FWEcorr |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
