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Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with de novo pathogenic variants in P...

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Autores principales: Previtali, Roberto, Leidi, Alessia, Basso, Martina, Izzo, Giana, Stignani, Cecilia, Spaccini, Luigina, Iascone, Maria, Veggiotti, Pierangelo, Bova, Stefania Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359812/
https://www.ncbi.nlm.nih.gov/pubmed/37483454
http://dx.doi.org/10.3389/fneur.2023.1181015
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author Previtali, Roberto
Leidi, Alessia
Basso, Martina
Izzo, Giana
Stignani, Cecilia
Spaccini, Luigina
Iascone, Maria
Veggiotti, Pierangelo
Bova, Stefania Maria
author_facet Previtali, Roberto
Leidi, Alessia
Basso, Martina
Izzo, Giana
Stignani, Cecilia
Spaccini, Luigina
Iascone, Maria
Veggiotti, Pierangelo
Bova, Stefania Maria
author_sort Previtali, Roberto
collection PubMed
description PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with de novo pathogenic variants in PHACTR1 and their clinical pictures, compared with those of cases already reported in the literature. In line with previous reports, the two patients presented early-onset developmental and epileptic encephalopathy. In addition, one patient developed a speech disorder and a progressive movement disorder characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, and retropulsion. She was treated with levodopa without any clinical improvement. Pathogenic variants in PHACTR1 may result in a cardiological or neurological phenotype. Severe developmental delay, intellectual disability, and early-onset developmental and epileptic encephalopathy are the main features of PHACTR1-mutated patients with neurological involvement. Movement and speech disorders have never previously been described and could be new features of the neurological phenotype.
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spelling pubmed-103598122023-07-22 Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants Previtali, Roberto Leidi, Alessia Basso, Martina Izzo, Giana Stignani, Cecilia Spaccini, Luigina Iascone, Maria Veggiotti, Pierangelo Bova, Stefania Maria Front Neurol Neurology PACHTR1 is expressed in cardiovascular and neurological tissues. In the brain, it has a role in pre- and post-natal maturation. Previously reported PHACTR1-mutated patients showed early-onset epilepsy and intellectual disability. We describe two unreported cases with de novo pathogenic variants in PHACTR1 and their clinical pictures, compared with those of cases already reported in the literature. In line with previous reports, the two patients presented early-onset developmental and epileptic encephalopathy. In addition, one patient developed a speech disorder and a progressive movement disorder characterized by hypertonus, hypo-bradykinesia, hypomimia, ataxic gait, and retropulsion. She was treated with levodopa without any clinical improvement. Pathogenic variants in PHACTR1 may result in a cardiological or neurological phenotype. Severe developmental delay, intellectual disability, and early-onset developmental and epileptic encephalopathy are the main features of PHACTR1-mutated patients with neurological involvement. Movement and speech disorders have never previously been described and could be new features of the neurological phenotype. Frontiers Media S.A. 2023-07-06 /pmc/articles/PMC10359812/ /pubmed/37483454 http://dx.doi.org/10.3389/fneur.2023.1181015 Text en Copyright © 2023 Previtali, Leidi, Basso, Izzo, Stignani, Spaccini, Iascone, Veggiotti and Bova. 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). 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 Neurology
Previtali, Roberto
Leidi, Alessia
Basso, Martina
Izzo, Giana
Stignani, Cecilia
Spaccini, Luigina
Iascone, Maria
Veggiotti, Pierangelo
Bova, Stefania Maria
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title_full Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title_fullStr Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title_full_unstemmed Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title_short Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
title_sort case report: early-onset parkinsonism among the neurological features in children with phactr1 variants
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359812/
https://www.ncbi.nlm.nih.gov/pubmed/37483454
http://dx.doi.org/10.3389/fneur.2023.1181015
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