Brain proton MR spectroscopy measurements in CLN3 disease.

ABSTRACT:

Background

CLN3 is an autosomal recessive lysosomal disorder with intracellular accumulation of ceroid-lipofuscins. CLN3 classically has onset around 4-6 years of age involving vision loss, followed by developmental regression and seizures. Symptoms are progressive and result in premature death. Because treatments are under development, here we explore magnetic resonance spectroscopy (MRS) measurements of metabolite levels in the brain as a potential objective outcome measures.

Methods

Individuals with genetically confirmed CLN3 were enrolled from October 2017-November 2021 in a prospective natural history study (NCT033007304). Baseline concentrations of brain metabolites measured by MRS were compared to concurrently collected dimensional assessment measures: Vineland-3 Adap

SUBMITTER: Dang Do AN 

PROVIDER: S-EPMC10202445 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature