Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies.

ABSTRACT:

Purpose

TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials.

Methods

Quantitative natural history modeling of individuals with TUBA1A and TUBB2B tubulinopathies from clinical reports and database entries of DECIPHER and ClinVar. Main outcome measures were age at disease onset, survival, and diagnostic delay. Phenotypical, neuroradiological, and histopathological features were descriptively illustrated.

Results

Mean age at disease onset was 4 (TUBA1A) and 6 months (TUBB2B), respectively. Mortality was equally estimated with 7% at 3.2 (TUBA1A) and

SUBMITTER: Schroter J 

PROVIDER: S-EPMC7935713 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature