Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review.

ABSTRACT:

Introduction

Tubulin genes have been related to severe neurological complications and the term "tubulinopathy" now refers to a heterogeneous group of disorders involving an extensive family of tubulin genes with TUBA1A being the most common. A review was carried out on the complex and severe brain abnormalities associated with this genetic anomaly.

Methods

A literature review of the cases of TUBA1A-tubulopathy was performed to investigate the molecular findings linked with cerebral anomalies and to describe the clinical and neuroradiological features related to this genetic disorder.

Results

Clinical manifestations of TUBA1A-tubulinopathy patients are heterogeneous and severe ranging from craniofacial dysmorphism, notable developmental delay, and

SUBMITTER: Pavone P 

PROVIDER: S-EPMC10515619 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature