2022
DOI: 10.3389/fimmu.2022.791522
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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms

Abstract: 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 p… Show more

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Cited by 4 publications
(3 citation statements)
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“…Patients with a homozygous mutation usually have some form of neurological complaint [1,5]. The atypical A-T has milder clinical features and cerebellar ataxia, oculocutaneous telangiectasia, and oculomotor apraxia are uncommon in atypical A-T [3]. The mutations in atypical A-T segregate within families, and the affected members of the family as a whole may present with movement problems rather than ataxia as the major hallmark of the condition.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Patients with a homozygous mutation usually have some form of neurological complaint [1,5]. The atypical A-T has milder clinical features and cerebellar ataxia, oculocutaneous telangiectasia, and oculomotor apraxia are uncommon in atypical A-T [3]. The mutations in atypical A-T segregate within families, and the affected members of the family as a whole may present with movement problems rather than ataxia as the major hallmark of the condition.…”
Section: Discussionmentioning
confidence: 99%
“…It is characterized by respiratory complaints such as bronchitis, bronchiectasis, and sinusitis; neurological complaints such as poor muscle coordination (clumsiness); and movement disorders such as dystonia, choreoathetosis, myoclonus, and tremors [1]. General physical appearance is characterized by the presence of short stature, café au lait spots, progeric skin and hair changes, oculocutaneous telangiectasia, horizontal head thrusts due to difficulty in initiating horizontal saccades (both voluntary and reflex saccades are affected), ocular apraxia, diabetes mellitus, and features of glucose intolerance like acanthosis nigricans, hypogonadism, lymphocytopenias, predisposition to malignancy, hypoimmunoglobulinemia, and other immune defects [2][3].…”
Section: Introductionmentioning
confidence: 99%
“…Patients also suffer from immunodeficiency, radiosensitivity, cancer susceptibility, recurrent sinopulmonary infections and high levels of serum alfa-fetoprotein. AT phenotypes vary, from severe early-onset to milder adult-onset, depending on the type of mutation ( 14 , 15 ).…”
Section: Introductionmentioning
confidence: 99%