Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

ABSTRACT:

Background

Beta-propeller protein-associated neurodegeneration (BPAN) is a rare neurodegenerative disorder characterized by iron accumulation in the brain with spectrum of neurodevelopmental and movement phenotypes. In anticipation of future clinical trials and to inform clinical care, there is an unmet need to capture the phenotypic diversity of this rare disorder and better define disease subtypes.

Methods

A total of 27 individuals with BPAN were included in our natural history study, from which traditional outcome measures were obtained in 18 subjects. Demographic and diagnostic information, along with acquisition of basic developmental skills and overall neurologic severity were extracted from the medical records. Functional outcome measures were administered at the time

SUBMITTER: Gavazzi F 

PROVIDER: S-EPMC9613602 | biostudies-literature | 2022 Sep-Oct

REPOSITORIES: biostudies-literature