Susceptibility-based investigation of deep gray matter in common types of degenerative cerebellar ataxias

Motivation: The understanding about iron metabolism and its potential contribution to pathology in cerebellar ataxias is limited. Goal(s): Our aim was to measure tissue magnetic susceptibility, indicating iron concentration, in deep gray matter across common types of degenerative cerebellar ataxias. Approach: Volume-of-interest and voxel-based analyses across deep gray matter areas were performed on susceptibility maps of 16 SCA1, 14 SCA2, 24 SCA3, 25 SCA6, 15 FRDA, and 18 MSAC patients and age- and sex-matched controls. Results: Subcortical iron dysregulation in individuals with cerebellar ataxia encompass not only regions of established pathology in the cerebellum, but also extend to midbrain and cerebral structures. Impact: This exploratory cross-sectional study contributes to the ongoing investigations of iron metabolism's role in cerebellar ataxias, showing the involvement of various deep gray matter regions in the midbrain and cerebrum across common types of degenerative cerebellar ataxias.