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Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role...

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Autores principales: Mencarelli, Annalisa, Prontera, Paolo, Stangoni, Gabriela, Mencaroni, Elisabetta, Principi, Nicola, Esposito, Susanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713243/
https://www.ncbi.nlm.nih.gov/pubmed/29109381
http://dx.doi.org/10.3390/ijms18112273
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author Mencarelli, Annalisa
Prontera, Paolo
Stangoni, Gabriela
Mencaroni, Elisabetta
Principi, Nicola
Esposito, Susanna
author_facet Mencarelli, Annalisa
Prontera, Paolo
Stangoni, Gabriela
Mencaroni, Elisabetta
Principi, Nicola
Esposito, Susanna
author_sort Mencarelli, Annalisa
collection PubMed
description Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role in the developing brain. TUBA1A mutations are associated with a wide spectrum of neurological problems, which are characterized by peculiar clinical details and neuroradiologic patterns. This manuscript describes the case of a nine-year-old girl with microcephaly, mild facial dysmorphisms, epileptic seizures, and severe developmental delay, with a de novo heterozygous c.320A>G [p.(His 107 Arg)] mutation in TUBA1A gene, and the clinical aspects and neuroimaging features of “lissencephaly syndrome” are summarized. This case shows that TUBA1A mutations lead to a variety of brain malformations ranging from lissencephaly with perisylvian pachygyria to diffuse posteriorly predominant pachygyria, combined with internal capsule dysgenesis, cerebellar dysplasia, and callosal hypotrophy. This peculiar neuroradiological pattern, in combination with the usually severe clinical presentation, suggests the need for future molecular studies to address the mechanisms of TUBA1A mutation-induced neuropathology.
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spelling pubmed-57132432017-12-07 Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature Mencarelli, Annalisa Prontera, Paolo Stangoni, Gabriela Mencaroni, Elisabetta Principi, Nicola Esposito, Susanna Int J Mol Sci Case Report Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role in the developing brain. TUBA1A mutations are associated with a wide spectrum of neurological problems, which are characterized by peculiar clinical details and neuroradiologic patterns. This manuscript describes the case of a nine-year-old girl with microcephaly, mild facial dysmorphisms, epileptic seizures, and severe developmental delay, with a de novo heterozygous c.320A>G [p.(His 107 Arg)] mutation in TUBA1A gene, and the clinical aspects and neuroimaging features of “lissencephaly syndrome” are summarized. This case shows that TUBA1A mutations lead to a variety of brain malformations ranging from lissencephaly with perisylvian pachygyria to diffuse posteriorly predominant pachygyria, combined with internal capsule dysgenesis, cerebellar dysplasia, and callosal hypotrophy. This peculiar neuroradiological pattern, in combination with the usually severe clinical presentation, suggests the need for future molecular studies to address the mechanisms of TUBA1A mutation-induced neuropathology. MDPI 2017-10-29 /pmc/articles/PMC5713243/ /pubmed/29109381 http://dx.doi.org/10.3390/ijms18112273 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Mencarelli, Annalisa
Prontera, Paolo
Stangoni, Gabriela
Mencaroni, Elisabetta
Principi, Nicola
Esposito, Susanna
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title_full Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title_fullStr Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title_full_unstemmed Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title_short Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature
title_sort epileptogenic brain malformations and mutations in tubulin genes: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5713243/
https://www.ncbi.nlm.nih.gov/pubmed/29109381
http://dx.doi.org/10.3390/ijms18112273
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