Evolution of striatal degeneration in McLeod syndrome

Eur J Neurol. 2010 Apr;17(4):612-8. doi: 10.1111/j.1468-1331.2009.02872.x. Epub 2009 Nov 24.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Brain / pathology
  • Brain Diseases / pathology*
  • Case-Control Studies
  • Caudate Nucleus / pathology*
  • Corpus Striatum / pathology
  • Cross-Sectional Studies
  • Genetic Diseases, X-Linked / pathology*
  • Humans
  • Longitudinal Studies
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neuroacanthocytosis / pathology*
  • Organ Size
  • Prospective Studies
  • Severity of Illness Index
  • Siblings
  • Syndrome
  • Young Adult