Results 11 to 20 of about 28,732 (186)
Pediatric Neurology Briefs, 1988 The onset below 15 years of age of autosomal dominant spinocerebellar ataxia (SCA) in 6 of 41 affected patients is reported from the Dept of Pediatrics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
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Ophthalmology, 2017 Recent work has demonstrated the importance of miRNAs in the pathogenesis of various brain disorders including the neurodegenerative disorder spinocerebellar ataxia (SCA). This review focuses on the role of miRNAs in the shared pathogenesis of the different SCA types.
Scott Wentz, Denis Jusufbegovic
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Arquivos de Neuro-Psiquiatria, 2009 Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
Alexander K. C. Leung +150 more
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PLD3 and spinocerebellar ataxia [PDF]
Brain, 2018 sponsorship: Funding was provided by the Alzheimer Forschung Initiative e.V. (M.D.) and the Deutsche Forschungsgemeinschaft (GRK 1459) (P.S.). AC.G. is supported by the Hans & Ilse Breuer foundation. D.M. is supported by National Institutes of Health (NIH) grant R21AI126011. (Alzheimer Forschung Initiative e.V., Deutsche Forschungsgemeinschaft|GRK 1459,
Gonzalez, Adriana Carolina +8 more
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Parkinsonism in Spinocerebellar Ataxia [PDF]
BioMed Research International, 2015 Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung +2 more
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Spinocerebellar ataxia: an update [PDF]
Journal of Neurology, 2018 Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on the recent clinical and scientific progresses in SCA where numerous novel genes have been identified with next-generation sequencing techniques. The main disease mechanisms of these SCAs include
Sullivan, R +3 more
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Dystonia and ataxia progression in spinocerebellar ataxias [PDF]
Parkinsonism & Related Disorders, 2017 Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA ( host institution ) +21 more
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The Spinocerebellar Ataxias [PDF]
Journal of Neuro-Ophthalmology, 2009 Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding of the causes of dominantly inherited ataxias, now known as the spinocerebellar ataxias (SCAs). Nearly 30 distinct genetic causes of SCA are known, numbered chronologically in order of discovery.
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Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs
Molecular Therapy: Nucleic Acids, 2017 Spinocerebellar ataxia type 36 is a late-onset, slowly progressive cerebellar syndrome with motor neuron degeneration that is caused by expansions of a hexanucleotide repeat (GGCCTG) in the noncoding region of NOP56 gene, with a histopathological feature
Kosuke Matsuzono +10 more
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A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III
Journal of Aziz Fatimah Medical and Dental College, 2023 Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri +5 more
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