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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the indi...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831727/ https://www.ncbi.nlm.nih.gov/pubmed/35154108 http://dx.doi.org/10.3389/fimmu.2022.791522 |
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author | Blanchard-Rohner, Geraldine Peirolo, Anna Coulon, Ludivine Korff, Christian Horvath, Judit Burkhard, Pierre R. Gumy-Pause, Fabienne Ranza, Emmanuelle Jandus, Peter Dibra, Harpreet Taylor, Alexander Malcolm R. Fluss, Joel |
author_facet | Blanchard-Rohner, Geraldine Peirolo, Anna Coulon, Ludivine Korff, Christian Horvath, Judit Burkhard, Pierre R. Gumy-Pause, Fabienne Ranza, Emmanuelle Jandus, Peter Dibra, Harpreet Taylor, Alexander Malcolm R. Fluss, Joel |
author_sort | Blanchard-Rohner, Geraldine |
collection | PubMed |
description | Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment. |
format | Online Article Text |
id | pubmed-8831727 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-88317272022-02-12 Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms Blanchard-Rohner, Geraldine Peirolo, Anna Coulon, Ludivine Korff, Christian Horvath, Judit Burkhard, Pierre R. Gumy-Pause, Fabienne Ranza, Emmanuelle Jandus, Peter Dibra, Harpreet Taylor, Alexander Malcolm R. Fluss, Joel Front Immunol Immunology Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder (PID) characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient’s needs. Besides the classical ataxia-telangiectasia (classical A-T) phenotype, a variant phenotype (variant A-T) exists with partly overlapping but some distinctive disease characteristics. Here we present a case series of 6 patients with classical A-T and variant A-T, which illustrates the phenotypic variability of A-T that can present in childhood with prominent extrapyramidal features, with or without cerebellar ataxia. We report the clinical data, together with a detailed genotype description, immunological analyses, and related expression of the ATM protein. We show that the presence of some residual ATM kinase activity leads to the clinical phenotype variant A-T that differs from the classical A-T. Our data illustrate that the diagnosis of the variant form of A-T can be delayed and difficult, while early recognition of the variant form as well as the classical A-T is a prerequisite for providing a correct prognosis and appropriate rehabilitation and support, including the avoidance of diagnostic X-ray procedures, given the increased risk of malignancies and the higher risk for side effects of subsequent cancer treatment. Frontiers Media S.A. 2022-01-28 /pmc/articles/PMC8831727/ /pubmed/35154108 http://dx.doi.org/10.3389/fimmu.2022.791522 Text en Copyright © 2022 Blanchard-Rohner, Peirolo, Coulon, Korff, Horvath, Burkhard, Gumy-Pause, Ranza, Jandus, Dibra, Taylor and Fluss 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 | Immunology Blanchard-Rohner, Geraldine Peirolo, Anna Coulon, Ludivine Korff, Christian Horvath, Judit Burkhard, Pierre R. Gumy-Pause, Fabienne Ranza, Emmanuelle Jandus, Peter Dibra, Harpreet Taylor, Alexander Malcolm R. Fluss, Joel Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title | Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title_full | Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title_fullStr | Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title_full_unstemmed | Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title_short | Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms |
title_sort | childhood-onset movement disorders can mask a primary immunodeficiency: 6 cases of classical ataxia-telangiectasia and variant forms |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8831727/ https://www.ncbi.nlm.nih.gov/pubmed/35154108 http://dx.doi.org/10.3389/fimmu.2022.791522 |
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