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Journal: T2-FLAIR hyperintensities in the inferior cerebellar peduncles and their association with clinical symptoms, molecular and MRI markers in male FMR1 premutation carriers

Center:
Fiscal Year:
2026
Contact Information:
Product Description:
Only carriers with FXTAS revealed ICP hyperintensities at last visits. Furthermore, ICP hyperintensity was associated with brain atrophy, increased white matter disease, the MCP sign, FXTAS stage, abnormal gait, lower cognitive functioning and faster age-related increase in anxiety and depression scores. Finally, carriers with ICP hyperintensities had significantly higher CGG repeat length than carriers without ICP hyperintensities.
Keyword(s):
FMR1 premutation; FXTAS, MRI; ataxia; fragile X-associated tremor/ataxia syndrome, inferior cerebellar peduncle; white matter.
Product/Publication Type(s):
Peer-reviewed publications in scholarly journals Published/In Press
Target Audience:
Professionals
Alternative Format:
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COVID-19 Related Data:
N/A