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  • Title: Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review.
    Author: Pavone P, Striano P, Cacciaguerra G, Marino SD, Parano E, Pappalardo XG, Falsaperla R, Ruggieri M.
    Journal: Front Pediatr; 2023; 11():1210272. PubMed ID: 37744437.
    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 intellectual delay to early-onset seizures, neuroradiologically associated with complex abnormalities. TUBA1A-tubulinopathy may display various and complex cortical and subcortical malformations. DISCUSSION: A range of clinical manifestations related to different cerebral structures involved may be observed in patients with TUBA1A-tubulinopathy. Genotype-phenotype correlations are discussed here. Individuals with cortical and subcortical anomalies should be screened also for pathogenic variants in TUBA1A.
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