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

K A Josephs1, J L Whitwell, J E Parisi

  • 1Department of Neurology (Behavioral Neurology), Mayo Clinic, Rochester, MN 55905, USA. josephs.keith@mayo.edu

Abstract

Insights

Frontotemporal lobar degeneration (FTLD) with fused in sarcoma protein (FTLD-FUS) pathology shows significant caudate atrophy on MRI. This finding may help distinguish FTLD-FUS from FTLD-TDP and FTLD-TAU.

Area of Science:

  • Neuroimaging
  • Neuropathology
  • Neurodegenerative Diseases

Background:

  • Frontotemporal lobar degeneration (FTLD) is classified into subtypes based on abnormal protein aggregation: tau (FTLD-TAU), TAR DNA-binding protein 43 (FTLD-TDP), and fused in sarcoma (FTLS-FUS).
  • Autopsy studies have indicated severe caudate atrophy in FTLD-FUS cases.

Observation:

  • This study investigated whether magnetic resonance imaging (MRI) can detect caudate atrophy to differentiate FTLD-FUS from FTLD-TDP and FTLD-TAU.
  • Volumetric MRI analysis was performed on three FTLD-FUS cases and compared with ten FTLD-TDP and ten FTLD-TAU cases.

Findings:

  • FTLD-FUS cases exhibited significantly smaller caudate volumes compared to FTLD-TDP and FTLD-TAU cases (P = 0.02).
  • Even after correcting for total grey matter or frontal lobe volume, caudate atrophy remained significantly greater in FTLD-FUS, with no overlap between groups (P = 0.01).
  • Frontal lobe grey matter volumes were similar across all FTLD subtypes.

Implications:

  • Severe caudate atrophy detected via MRI may serve as a valuable imaging biomarker for predicting FTLD-FUS pathology.
  • This finding could aid in the clinical diagnosis and differentiation of FTLD subtypes, guiding further patient management.