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Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield+4 more
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ABSTRACT PURPOSE OF REVIEW This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia. RECENT FINDINGS Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a ...
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Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield+4 more
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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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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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Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
The clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins ...
Mario Manto, Hiroshi Mitoma
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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi+9 more
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IntroductionAdvances in the operational mode of the cerebellum indicate a role in sequencing and predicting non-social and social events, crucial for individuals to optimize high-order functions, such as Theory of Mind (ToM).
Libera Siciliano+13 more
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Objectives 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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HMTase Inhibitors as a Potential Epigenetic-Based Therapeutic Approach for Friedreich’s Ataxia
Friedreich’s ataxia (FRDA) is a progressive neurodegenerative disorder caused by a homozygous GAA repeat expansion mutation in intron 1 of the frataxin gene (FXN), which instigates reduced transcription.
Mursal Sherzai+7 more
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