Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms

Article Article scientifique Article Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms eng 2022-01-28 2022 author Blanchard Rohner Géraldine 518713 author Peirolo Anna author Coulon Ludivine 634804 author Korff Christian 0000-0002-3328-7680 30053 author Horvath Judit 673705 author Burkhard Pierre 0000-0002-7459-5778 92389 author Gumy Pause Fabienne 0000-0002-2835-4367 133418 author Ranza Emmanuelle Nathalie 517664 author Jandus Peter 0000-0002-2143-7856 769455 author Dibra Harpreet author Taylor Alexander Malcolm R author Fluss Joel Victor 28801 791522 10.3389/fimmu.2022.791522 35154108 1664-3224 PMC8831727 https://www.frontiersin.org/articles/10.3389/fimmu.2022.791522/full 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. ATM kinase activity Ataxia telangiectasia Cerebellar ataxia Immunodeficiency Movement disorder Dewey 616.8 Dewey 616 Dewey 618 56 Département de médecine 221 58 Département de pédiatrie, gynécologie et obstétrique 223 61 Département des neurosciences cliniques 226 false 124 Groupe Pierre Burkhard (neurologie) 154 143 Centre de vaccinologie et d'immunologie néonatale 177 Frontiers in immunology 13 80938639-797b-4b45-9cc9-a762d78c4b50 Article (Published version) Public Article-scientifique-from-europePmc.pdf 837462 application/pdf CC BY-4.0 openAccess Faculté de médecine / Section de médecine clinique / Département de médecine Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique Faculté de médecine / Section de médecine clinique / Département des neurosciences cliniques

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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms	Frontiers in immunology			2022	238	101

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