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Ataxia telangiectasia: a review
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
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Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
Tomography, 2021 Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical ...
Petya Bogdanova-Mihaylova +6 more
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NeuroImage: Clinical, 2017 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome, which can be isolated or associated with extracerebellar signs.
G. Olivito +9 more
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Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients
Frontiers in Neurology, 2021 Background: Patients with suspected genetic ataxia are often tested for Friedreich's ataxia (FRDA) and/or a variety of spinocerebellar ataxias (SCAs). FRDA can present with atypical, late-onset forms and so may be missed in the diagnostic process.
Alexander F. Brown +6 more
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Novel Nrf2-Inducer Prevents Mitochondrial Defects and Oxidative Stress in Friedreich’s Ataxia Models
Frontiers in Cellular Neuroscience, 2018 Friedreich’s Ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, affecting dorsal root ganglia (DRG), cerebellar dentate nuclei and heart. It is caused by a GAA repeat expansion mutation within the frataxin gene (FXN).
Rosella Abeti +3 more
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Frontiers in Cellular Neuroscience, 2019 Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
Silvia Clausi +9 more
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BMJ OpenObjectives This study aims to assess the patient-reported benefits and the costs of coordinated care and multidisciplinary care at specialist ataxia centres (SACs) in the UK compared with care delivered in standard neurological clinics.Design A patient ...
Stephen Morris +6 more
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Emerging therapies and recent advances for Tourette syndrome
Heliyon, 2023 Tourette syndrome is the most prevalent hyperkinetic movement disorder in children and can be highly disabling. While the pathomechanism of Tourette syndrome remains largely obscure, recent studies have greatly improved our knowledge about this disease ...
Chih-Yi Chou +2 more
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Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational NeurologyObjective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication.
Zena Fadel +5 more
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Frontiers in Neuroscience, 2022 Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang +17 more
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