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From Mild Ataxia to Huntington Disease Phenocopy: The Multiple Faces of Spinocerebellar Ataxia 17
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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Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort
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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Exploring neuropsychiatric symptoms in Friedreich ataxia
Published 2024-11-01Subjects: “…Friedreich ataxia…”
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A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome
Published 2013-01-01“…Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. …”
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Resúmenes de los trabajos sobre la atrofia espinocerebelosa
Published 2010-03-01Subjects: “…ataxia…”
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Editorial: The mechanistic investigation and emerging therapies for Friedreich’s ataxia
Published 2025-02-01Subjects: Get full text
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Depression and Associated Factors Among Patients with Spinocerebellar Ataxia
Published 2025-01-01Subjects: “…spinocerebellar ataxia…”
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The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6
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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Ataxia, Ophthalmoplegia, and Areflexia: What Would You Think?
Published 2012-01-01Get full text
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Drug repurposing screen for the rare disease ataxia-telangiectasia
Published 2025-01-01Subjects: Get full text
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Clinical-cognitive Characterization of Spinocerebellar Ataxia Type 2
Published 2021-09-01Subjects: “…ataxias espinocerebelosas…”
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Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage?
Published 2015-01-01“…Ataxia-telangiectasia (A-T) is a rare neurodegenerative, inherited disease causing severe morbidity. …”
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Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions
Published 2019-07-01Subjects: “…spinocerebellar ataxia…”
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Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia
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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Fragile X-associated tremor/ataxia syndrome: A case report
Published 2025-02-01Get full text
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Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels
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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Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient
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
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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Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?
Published 2011-01-01“…A possible association between Friedreich's ataxia (FA) and neoplastic development has been recognized. …”
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Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
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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