Results 11 to 20 of about 115,141 (275)
NATO ASI Series, 2020 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually
Adel Ekladious
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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
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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
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Proceedings of the Royal Society of Medicine, 1970 The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Tattersall, P J, Toghill
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Dopa-Responsive dystonia: An early presentation of ataxia-telangiectasia
Annals of Indian Academy of Neurology, 2022 Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent ...
Anshita Arora +3 more
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]
Journal of Integrative Neuroscience, 2020 Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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Aging Cell, 2021 Senescence phenotypes and mitochondrial dysfunction are implicated in aging and in premature aging diseases, including ataxia telangiectasia (A‐T). Loss of mitochondrial function can drive age‐related decline in the brain, but little is known about ...
Beimeng Yang +14 more
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Ataxia-Telangiectasia Familiar: Un reporte de casos
Revista de la Facultad de Medicina, 2023 Ataxia Telangiectasia (A-T) es una enfermedad autosómica recesiva (OMIM #208900) con afección neurológica severa, como primer síntoma típico siendo la ataxia cerebelosa.
Anna Yurrita +3 more
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Real-life Wrist Movement Patterns Capture Motor Impairment in Individuals with Ataxia-Telangiectasia
Cerebellum, 2022 Sensitive motor outcome measures are needed to efficiently evaluate novel therapies for neurodegenerative diseases. Devices that can passively collect movement data in the home setting can provide continuous and ecologically valid measures of motor ...
Anoopum S. Gupta +4 more
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