Brain Region-Specific Degeneration with Disease Progression in Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease).

ABSTRACT:

Background and purpose

Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a uniformly fatal lysosomal storage disease resulting from mutations in the CLN2 gene. Our hypothesis was that regional analysis of cortical brain degeneration may identify brain regions that are affected earliest and most severely by the disease.

Materials and methods

Fifty-two high-resolution 3T MR imaging datasets were prospectively acquired on 38 subjects with CLN2. A retrospective cohort of 52 disease-free children served as a control population. The FreeSurfer software suite was used for calculation of cortical thickness.

Results

An increased rate of global cortical thinning in CLN2 versus control subjects was the primary finding in this study. Three distinct patterns were obs

SUBMITTER: Dyke JP 

PROVIDER: S-EPMC4907890 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature