Regional vulnerability in Huntington's disease: fMRI-guided molecular analysis in patients and a mouse model of disease.

ABSTRACT: Although the huntingtin gene is expressed in brain throughout life, phenotypically Huntington's disease (HD) begins only in midlife and affects specific brain regions. Here, to investigate regional vulnerability in the disease, we used functional magnetic resonance imaging (fMRI) to translationally link studies in patients with a mouse model of disease. Using fMRI, we mapped cerebral blood volume (CBV) in three groups: HD patients, symptom-free carriers of the huntingtin genetic mutation, and age-matched controls. In contrast to a region in the anterior caudate, in which dysfunction was linked to genotype independent of phenotype, a region in the posterior body of the caudate was differentially associated with disease phenotype. Guided by these observations, we harvested regions from the a

SUBMITTER: Lewandowski NM 

PROVIDER: S-EPMC4435974 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature