Results 1 to 10 of about 30,204 (149)
Arquivos de Neuro-Psiquiatria, 2015 Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies.
Letícia Sauma +2 more
doaj +7 more sources
Ataxia telangiectasia: a review [PDF]
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
doaj +3 more sources
Growth in ataxia telangiectasia [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (
Valerie A. I. Natale +8 more
doaj +4 more sources
Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia [PDF]
ChildrenAtaxia-telangiectasia is a rare autosomal recessive disorder that is difficult to diagnose due to its unpredictable presentation. It is characterized by cerebellar degeneration, telangiectasias, immunodeficiency, frequent pulmonary infections, and tumors.
Borko Milanovic +6 more
doaj +2 more sources
Arquivos de Neuro-Psiquiatria, 1966 São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico.
Nelson Pires Ferreira
doaj +3 more sources
A 10-Year-Old Boy With Ataxia-Telangiectasia: A Rare Case Report From Yemen [PDF]
Clinical Medicine Insights: Case ReportsBackground: Ataxia telangiectasia (A-T) is an uncommon autosomal recessive disorder, affecting 1 to 2 individuals per 100 000 live births. It results from mutations in the ATM gene.
Maher Muneer +8 more
doaj +2 more sources
Loss of CD98HC phosphorylation by ATM impairs antiporter trafficking and drives glutamate toxicity in Ataxia telangiectasia [PDF]
Nature CommunicationsAtaxia-telangiectasia is a rare genetic disorder characterized by neurological defects, immunodeficiency, cancer predisposition, radiosensitivity, decreased blood vessel integrity, and diabetes. ATM, the protein mutated in Ataxia-telangiectasia, responds
July Carolina Romero +22 more
doaj +2 more sources
Myoclonus in Ataxia-Telangiectasia
Tremor and Other Hyperkinetic Movements, 2015 Background: Various movement disorders can be found in ataxia-telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT.
Pichet Termsarasab +2 more
doaj +5 more sources
Seminars in Pediatric NeurologyAtaxia telangiectasia (AT) is a rare neurocutaneous syndrome that results from biallelic pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, named for its characteristic cerebellar ataxia in the early toddler years and variable oculocutaneous telangiectasias in the school age years. While its name only hints at neurologic and cutaneous
Riboldi GM +3 more
europepmc +4 more sources