Showing 1 - 20 results of 149 for search '"ataxia"', query time: 0.06s Refine Results
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    From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17 by Georgios Koutsis, Marios Panas, George P. Paraskevas, Anastasia M. Bougea, Athina Kladi, Georgia Karadima, Elisabeth Kapaki

    Published 2014-01-01
    “…Introduction. Spinocerebellar ataxia 17 (SCA 17) is a rare autosomal dominant cerebellar ataxia (ADCA) caused by a CAG/CAA expansion in the TBP gene, reported from a limited number of countries. …”
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    Article
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    Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort by Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee

    Published 2025-01-01
    “…Abstract Objective The genetic causes of a significant number of patients with cerebellar ataxia remain unsolved. Variations in the ITM2B gene, typically linked to dominantly inherited dementia, can sometimes present with cerebellar ataxia as an early symptom. …”
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    A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome by Luigi Nespoli, Annapia Verri, Silvia Tajè, Francesco Paolo Pellegrini, Maddalena Marinoni

    Published 2013-01-01
    “…Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. …”
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    Article
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    The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6 by Freya E. Cooper, Manon Grube, Kelly J. Elsegood, John L. Welch, Thomas P. Kelly, Patrick F. Chinnery, Timothy D. Griffiths

    Published 2010-01-01
    “…This study sought evidence for a specific cerebellar contribution to cognition by characterising the cognitive phenotype of Spinocerebellar Ataxia Type 6 (SCA-6); an autosomal dominant genetic disease which causes a highly specific late-onset cerebellar degeneration. …”
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    Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage? by Fatma Deniz Aygün, Serdar Nepesov, Haluk Çokuğraş, Yıldız Camcıoğlu

    Published 2015-01-01
    “…Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. …”
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    Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia by Semiha Kurt, Betul Cevik, Durdane Aksoy, E. Irmak Sahbaz, Aslı Gundogdu Eken, A. Nazli Basak

    Published 2016-01-01
    “…The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. …”
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    Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels by Clara Sarró, Catherine Stalin, Rodrigo Gutierrez‐Quintana, Ana Cloquell

    Published 2025-01-01
    “…Abstract Background Episodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature. …”
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    Article
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    Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient by Eric Black

    Published 2019-01-01
    “…Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. …”
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    Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome by Kyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, Eleni P. Kotanidou, Ioannis Papoulidis, Assimina Galli-Tsinopoulou, Maria Fotoulaki

    Published 2024-01-01
    “…Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the DNAJC19 gene. …”
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    Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia by D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake

    Published 2020-01-01
    “…Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. …”
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    Article