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Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
BACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851838/ https://www.ncbi.nlm.nih.gov/pubmed/35177115 http://dx.doi.org/10.1186/s13052-021-01194-2 |
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author | Pavone, Piero Pappalardo, Xena Giada Mustafa, Naira Cho, Sung Yoon Jin, Dong Kyu Incorpora, Gemma Falsaperla, Raffaele Marino, Simona Domenica Corsello, Giovanni Parano, Enrico Ruggieri, Martino |
author_facet | Pavone, Piero Pappalardo, Xena Giada Mustafa, Naira Cho, Sung Yoon Jin, Dong Kyu Incorpora, Gemma Falsaperla, Raffaele Marino, Simona Domenica Corsello, Giovanni Parano, Enrico Ruggieri, Martino |
author_sort | Pavone, Piero |
collection | PubMed |
description | BACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. CASE PRESENTATION: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. CONCLUSIONS: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-021-01194-2. |
format | Online Article Text |
id | pubmed-8851838 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-88518382022-02-22 Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability Pavone, Piero Pappalardo, Xena Giada Mustafa, Naira Cho, Sung Yoon Jin, Dong Kyu Incorpora, Gemma Falsaperla, Raffaele Marino, Simona Domenica Corsello, Giovanni Parano, Enrico Ruggieri, Martino Ital J Pediatr Case Report BACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. CASE PRESENTATION: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. CONCLUSIONS: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-021-01194-2. BioMed Central 2022-02-17 /pmc/articles/PMC8851838/ /pubmed/35177115 http://dx.doi.org/10.1186/s13052-021-01194-2 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Pavone, Piero Pappalardo, Xena Giada Mustafa, Naira Cho, Sung Yoon Jin, Dong Kyu Incorpora, Gemma Falsaperla, Raffaele Marino, Simona Domenica Corsello, Giovanni Parano, Enrico Ruggieri, Martino Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title_full | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title_fullStr | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title_full_unstemmed | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title_short | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
title_sort | alternating hemiplegia of childhood: neurological comorbidities and intrafamilial variability |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8851838/ https://www.ncbi.nlm.nih.gov/pubmed/35177115 http://dx.doi.org/10.1186/s13052-021-01194-2 |
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