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A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers
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    Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated.


    The current study characterized structural abnormalities associated with fragile X premutation carriers (with and without fragile X-associated tremor/ataxia syndrome) in the thalamus, caudate nucleus, putamen, and globus pallidus using T1-weighted and diffusion tensor imaging.


    Male premutation carriers with fragile X-associated tremor/ataxia syndrome showed significant volume atrophy and diffusion-weighted signal loss in all 4 structures compared to the control group. They also exhibited volume atrophy and diffusion-weighted signal loss in the thalamus and striatum compared to the premutation carriers without fragile X-associated tremor/ataxia syndrome. Importantly, many of the measurements exhibited robust correlations with symptom severity, with volume and DWI measurements displaying negative correlations and fractional anisotropy measurements displaying positive correlations.


    The current study demonstrated involvement of all 4 subcortical gray matter structures in fragile X-associated tremor/ataxia syndrome, with significant volume atrophy, and possibly iron deposition indicated by the diffusion-weighted signal loss. The significant correlation between the subcortical measurements and symptom severity suggests the benefits of tracking structural changes in the subcortical gray matter in future longitudinal studies for early detection and disease monitoring.

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  • Funding:
    R01 HD054764/HD/NICHD NIH HHS/United States
    TL1DA024854/DA/NIDA NIH HHS/United States
    P30 HD002274/HD/NICHD NIH HHS/United States
    R01 MH078041/MH/NIMH NIH HHS/United States
    MH078041/MH/NIMH NIH HHS/United States
    RL1 NS062412/NS/NINDS NIH HHS/United States
    UL1 DE0199583/DE/NIDCR NIH HHS/United States
    U50 DD000596/DD/NCBDD CDC HHS/United States
    RL1AG032115/AG/NIA NIH HHS/United States
    TL1 DA024854/DA/NIDA NIH HHS/United States
    UL1 RR024146/RR/NCRR NIH HHS/United States
    HD036071/HD/NICHD NIH HHS/United States
    RL1 AG032115/AG/NIA NIH HHS/United States
    NS062412/NS/NINDS NIH HHS/United States
    R01 HD036071/HD/NICHD NIH HHS/United States
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