Original articleBrain Structure in Preclinical Huntington’s Disease
Section snippets
Procedure
Participants who had previously undergone elective presymptomatic genetic testing and found to have the HD gene mutation were recruited from the HD Registry at the University of Iowa (n = 24). Subjects were excluded if they had a diagnosis of manifest HD, history of learning disorder or mental retardation, unstable medical or psychiatric illness, history of alcohol or drug abuse within the previous year, history of other central nervous system disease or event, or pacemaker or metallic
Results
Table 2 displays the results of the brain measure analysis. General measures of intracranial volume, total brain volume, cerebral volume, and cerebellar volume did not differ between preHD participants and control subjects. Although total CSF was greater in the preHD participants, the excess CSF was found to be supratentorial and limited to the surface of the cerebrum as there was no enlargement of the ventricle volume.
Although the volume of the cerebrum as a whole was not different from
Discussion
This is the first comprehensive, quantitative study of brain morphology in preclinical HD. The findings indicate widespread abnormalities in brain morphology including a tissue distribution abnormality with reduced volume of the cerebral white matter and increased volume of the cortical gray matter. These tissue abnormalities were not regionally specific to any lobe of the cerebrum, indicating a generalized phenomenon.
There have been several studies of striatal volume in preclinical HD, and all
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