AUTHOR=Pavone Piero , Striano Pasquale , Cacciaguerra Giovanni , Marino Simona Domenica , Parano Enrico , Pappalardo Xena Giada , Falsaperla Raffaele , Ruggieri Martino 

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

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1210272

DOI=10.3389/fped.2023.1210272

ISSN=2296-2360

ABSTRACT=<sec><title>Introduction</title><p>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 <italic>TUBA1A</italic> being the most common. A review was carried out on the complex and severe brain abnormalities associated with this genetic anomaly.</p></sec><sec><title>Methods</title><p>A literature review of the cases of <italic>TUBA1A</italic>-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.</p></sec><sec><title>Results</title><p>Clinical manifestations of <italic>TUBA1A</italic>-tubulinopathy patients are heterogeneous and severe ranging from craniofacial dysmorphism, notable developmental delay, and intellectual delay to early-onset seizures, neuroradiologically associated with complex abnormalities. <italic>TUBA1A</italic>-tubulinopathy may display various and complex cortical and subcortical malformations.</p></sec><sec><title>Discussion</title><p>A range of clinical manifestations related to different cerebral structures involved may be observed in patients with <italic>TUBA1A</italic>-tubulinopathy. Genotype–phenotype correlations are discussed here. Individuals with cortical and subcortical anomalies should be screened also for pathogenic variants in <italic>TUBA1A</italic>.</p></sec>