Cargando…
Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review
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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515619/ https://www.ncbi.nlm.nih.gov/pubmed/37744437 http://dx.doi.org/10.3389/fped.2023.1210272 |
_version_ | 1785108986224181248 |
---|---|
author | Pavone, Piero Striano, Pasquale Cacciaguerra, Giovanni Marino, Simona Domenica Parano, Enrico Pappalardo, Xena Giada Falsaperla, Raffaele Ruggieri, Martino |
author_facet | Pavone, Piero Striano, Pasquale Cacciaguerra, Giovanni Marino, Simona Domenica Parano, Enrico Pappalardo, Xena Giada Falsaperla, Raffaele Ruggieri, Martino |
author_sort | Pavone, Piero |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10515619 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-105156192023-09-23 Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review Pavone, Piero Striano, Pasquale Cacciaguerra, Giovanni Marino, Simona Domenica Parano, Enrico Pappalardo, Xena Giada Falsaperla, Raffaele Ruggieri, Martino Front Pediatr Pediatrics 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. Frontiers Media S.A. 2023-09-08 /pmc/articles/PMC10515619/ /pubmed/37744437 http://dx.doi.org/10.3389/fped.2023.1210272 Text en © 2023 Pavone, Striano, Cacciaguerra, Marino, Parano, Pappalardo, Falsaperla and Ruggieri. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Pavone, Piero Striano, Pasquale Cacciaguerra, Giovanni Marino, Simona Domenica Parano, Enrico Pappalardo, Xena Giada Falsaperla, Raffaele Ruggieri, Martino Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title | Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title_full | Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title_fullStr | Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title_full_unstemmed | Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title_short | Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review |
title_sort | case report: structural brain abnormalities in tuba1a-tubulinopathies: a narrative review |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515619/ https://www.ncbi.nlm.nih.gov/pubmed/37744437 http://dx.doi.org/10.3389/fped.2023.1210272 |
work_keys_str_mv | AT pavonepiero casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT strianopasquale casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT cacciaguerragiovanni casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT marinosimonadomenica casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT paranoenrico casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT pappalardoxenagiada casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT falsaperlaraffaele casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview AT ruggierimartino casereportstructuralbrainabnormalitiesintuba1atubulinopathiesanarrativereview |