Regional specificity of brain atrophy in Huntington's disease

The present study analyzes the relationship between cortical and subcortica l brain volumes in patients with Huntington's disease. The brains of seven patients with a clinical diagnosis and positive family history of Huntingto n's disease and 12 controls were collected at autopsy with consent from rel atives. Detailed clinical assessments were available for all study subjects with genotype confirmation for patients with Huntington's disease. Volume analysis of the brain on serial 3-mm coronal slices was performed as previo usly described. All patients with Huntington's disease exhibited significan t brain atrophy resulting from volume reductions in both cortical and subco rtical grey matter. Atrophy of the cortex was relatively uniform, although the medial temporal lobe structures were spared. The caudate nucleus and pu tamen were strikingly reduced in all cases and this atrophy correlated with the severity of cortical atrophy, suggesting an associated disease process . The rate of cortical but not subcortical atrophy correlated with CAG repe at numbers. Loss of frontal white matter correlated with both cortical and striatal atrophy. Age of onset of chorea correlated with the amount of subc ortical atrophy, while duration of chorea correlated negatively with atroph y of the white matter. These results suggest a more widespread and global d isease process in patients with Huntington's disease. (C) 1998 Academic Pre ss.