Subcortical Morphology in Niemann Pick Type C

Striatal, hippocampal, thalamic and cerebellar MRI changes characterise NPC

In two recent papers, we have shown that Niemann-Pick type C (NPC) in adults is characterised by significant subcortical volumetric changes that correlate with various illness variables including cognition, ataxia and ocular-motor functioning. This expands on our suite of neuroimaging papers in NPC, the only group neuroimaging studies in this disorder, by further clarifying the relationships between brain changes and behaviour in this disorder. We have shown that volumetric changes are greatest in those regions that carry the largest neurofibrillary tangle burden and/or ganglioside excess based on neuropathological studies, and that these changes correlate with illness stage, cognition, ataxia measures and key ocular-motor saccadic measures. The first paper involved collaborating with Brian Patenaude (author of the FIRST toolbox in FSL, from the Oxford FMRIB group); the second utilised Freesurfer methodology to parcellate the cerebellum.

These two papers can be found
here and here.

Walterfang et al. Subcortical volumetric reductions in adult Niemann-Pick type C: a cross-sectional study.
Am J Neuroradiol in press.

Walterfang et al. Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C.
Mol Genet Metab 108: 85-89, 2013.