Caudate atrophy on MRI is a characteristic feature of FTLD‐FUS

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Abstract
Background and purpose:  Frontotemporal lobar degeneration (FTLD) can be subdivided into those in which the abnormal protein is tau (FTLD‐TAU), the TAR DNA binding protein 43 (FTLD‐TDP) and the fused in sarcoma protein (FTLD‐FUS). We have observed severe caudate atrophy at autopsy in FTLD‐FUS, and hence, we aimed to determine whether caudate atrophy on MRI is a feature that can distinguish FTLD‐FUS from FTLD‐TDP and FTLD‐TAU.Methods:  From a cohort of 207 cases of FTLD, we identified all cases of FTLD‐FUS that had a volumetric antemortem head MRI (n = 3). Caudate and frontal lobe volumes were measured in all three cases using atlas‐based parcellation and SPM5 and were compared to 10 randomly selected cases of FTLD‐TDP and 10 randomly selected cases of FTLD‐TAU. Total grey matter volumes were also calculated for all cases.Results:  The FTLD‐FUS cases had significantly smaller caudate volumes (P = 0.02) yet similar frontal lobe grey matter volumes (P = 0.12) compared to FTLD‐TDP and FTLD‐TAU. Caudate volumes when corrected for total grey matter volume (P = 0.01) or frontal lobe grey matter volume (P = 0.01) were significantly smaller in FTLD‐FUS than in FTLD‐TDP and FTLD‐TAU and showed no overlap with the other two groups.Conclusions:  Caudate atrophy on MRI appears to be significantly greater in FTLD‐FUS compared with FTLD‐TDP and FTLD‐TAU, suggesting that severe caudate atrophy may be a useful clinical feature to predict FTLD‐FUS pathology.

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