Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1.

ABSTRACT: Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value. Many neurological disorders, including inherited, metabolic Niemann-Pick disease, type C (NPC), exhibit ataxia. Both individuals with NPC and murine models manifest ataxia, and investigational therapies impacting this phenotype in mice have been reported to slow disease progression in patients (e.g. miglustat, intrathecal 2-hydroxypropyl-beta-cyclodextrin, and acetyl-L-leucine). Reproducible phenotypic scoring of animal models can facilitate comparisons between genotypes, sexes, disease course, and therapies. Previously, other groups have developed a composite phenotypic sco

SUBMITTER: Yerger J 

PROVIDER: S-EPMC9096702 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature