Alagille Syndrome
Genetic and Congenital
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Cerebral White Matter Changes Show Clinical Significance in Huntington Disease

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Huntington disease (HD) is associated with cell loss neurons in the basal ganglia and cortex, but more recent evidence suggests concomitant cerebral white matter changes. A study investigating differences in the large fascicular bundles of the cerebral white matter of gene-positive HD carriers, including preclinical individuals and early symptomatic patients, found the following:

  • Early changes in radial diffusivities of select tracts in motor-negative presymptomatic HD individuals were associated with impaired performance on neuropsychological tests, suggesting early changes in myelin might underlie early cognitive dysfunction;
  • Increases in axial diffusivities of select tracts were associated with regionally select cortical thinning of areas known to atrophy in HD, including the sensorimotor, supramarginal, and fusiform gyrus, suggesting that axial diffusivities may reflect pyramidal cell degeneration in HD.

The study investigators concluded that their results “suggest that white matter microstructural changes in HD reflect a complex, clinically relevant, and dynamic process.”

Read more here.


Rosas HD, Wilkens P, Salat DH, et al. Complex spatial and temporally defined myelin and axonal degeneration in Huntington disease. NeuroImage Clin. 2018;20:236-242. doi:10.1016/j.nicl.2018.01.029.

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