Results 21 to 30 of about 30,315 (187)

Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated

Journal of Family Medicine and Primary Care, 2020
Ataxia telangiectasia is a rare neurodegenerative autosomal recessive multisystem disorder which has been reported only once in the dental literature.
Mebin George Mathew
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Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]

PLoS ONE, 2013
Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh, David S Zee, Allen S Mandir, Howard M Lederman, Thomas O Crawford   +4 more
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More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
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Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report [PDF]

Journal of Pediatrics Review, 2023
Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls).
Mohammad Reza Khosravi, Ghazal Abbasi, Leila Shahbaznejad, Javad Ghaffari, Abbas Dabghzade   +4 more
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Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Frontiers in Neurology, 2023
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Maria Jędrzejowska, Stanisław Szlufik   +5 more
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Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report

Indian Journal of Pathology and Microbiology, 2023
Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity, and cancers particularly of hemato ...
Tej P Singh, Shraddha Patkar, Mahesh Goel, Munita Bal Menon   +3 more
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Ataxia-telangiectasia

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
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Case Reports in Genetics, 2020
Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from
D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake   +6 more
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Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

Oman Medical Journal, 2020
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is
Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammadi   +6 more
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Ataxia-Telangiectasia

Pediatric Neurology Briefs, 1990
The proportion of T-cell antigen receptors in ten patients with ataxia-telangiectasia were compared with normal subjects and patients with other immune deficits at the Departments of Clinical Immunology and Pediatrics, University of Rome, “la Sapienza ...
J Gordon Millichap
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