Evolution of striatal degeneration in McLeod syndrome.

BACKGROUND AND PURPOSE McLeod neuroacanthocytosis syndrome (MLS) is an X-linked multisystem disorder with CNS manifestations resembling Huntington disease. Neuroimaging studies revealed striatal atrophy with predominance of the caudate nucleus. Our previous cross-sectional MRI study showed an association of volume loss in the caudate nucleus and putamen with the disease duration. METHODS In the present study, we examined three brothers with genetically confirmed diagnosis of MLS using an observer-independent and fully automated subcortical segmentation procedure to measure striatal volumes. RESULTS In a cross-sectional comparison with 20 healthy age-matched control men, the volumes of the caudate nucleus of the three patients were significantly smaller as confirmed by z-score transformations. On an individual basis, volumes in the two more severely affected and older patients were smaller than in the less affected younger brother. Longitudinal MRI-based measurements over 7 years demonstrated a statistical trend towards significant decreased caudate volumes in McLeod patients. CONCLUSIONS Our findings indicate that structural MRI combined with fully automated computational morphometric analyses represents an objective and observer-independent imaging tool for the representation of progressive striatal degeneration in MLS and might be a valuable methodology for cross-sectional as well as longitudinally volumetric studies in other rare neurodegenerative diseases, even on individual patients.