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machado-joseph disease/ataxia
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12 results
Astrocytic Markers and the Pre-ataxic Period of SCA3/MJD - BIGPRO Study Astrocytes
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Spinocerebellar ataxia type 3, or Machado-Joseph disease (SCA3/MJD), is an autosomal dominant neurodegenerative disorder caused by a CAG expansion at ATXN3. The gene product is a 42kDa protein called ataxin-3, widely expressed in neurons and peripheral tissues. Physiological roles of ataxin-3
Efficacy Of Oral Trehalose In Spinocerebellar Ataxia 3
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Spinocerebellar ataxia 3 (SCA3) is a rare form of inherited neurodegenerative disease involving progressive degeneration of spinocerebellar tract. SCA3 is characterised by increasingly worsening cerebellar function leading to gait abnormalities and poor coordination, dysarthria, and abnormal eye
Natural History of Oculomotor Neurophysiology in Ataxic and Pre-ataxic Carriers of SCA3/MJD
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Spinocerebellar ataxia type 3, also called Machado-Joseph disease (SCA3/MJD), is an autosomal dominant neurodegenerative disorder caused by a CAG expansion (CAGexp) on ATXN3. Over 20 years after the identification of the causal mutation, no form of prevention or treatment for this incapacitating
Clinical Effects of Oral Trehalose In Patients With Spinocerebellar Ataxia 3
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This prospective single arm interventional study involved 13 genetically confirmed spinocerebellar ataxia (SCA) 3 patients with no concomitant diabetes, over 6 months. Following baseline assessment, patients were instructed to ingest 100g of oral trehalose diluted in 500ml of water or other
Identification of Biomarkers in Spinocerebellar Ataxia 3
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Participants will undergo a SARA exam, a lumbar puncture and a blood draw. A lumbar puncture is a procedure in which a small amount of the spinal fluid that surrounds the brain and spinal cord is removed by inserting a needle in the lower back. Participants will be asked not to eat or drink anything
Clinical Trial With Riluzole in Spinocerebellar Ataxia Type 2 (ATRIL)
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Inherited cerebellar ataxias are genetically heterogeneous neurological disorders. They are characterized by ataxic gait and cerebellar dysarthria that progresses over time with loss of ambulation and speech. The mutations by expansions of CAG triplets in the genes ATXN1 (SCA1), ATXN 2 (SCA2), 3
Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia
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Thirty individuals who have been diagnosed with either Spinocerebellar Ataxia - 1 (SCA1), Spinocerebellar Ataxia - 3 (SCA3), or Spinocerebellar Ataxia - 6 (SCA6) will be recruited for this study. Participants will be randomly assigned to a best medical management (BMM / control) group and an
Parkinsonism in Spinocerebellar Ataxia Type 6
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Specifically, we would expect to see
1. Parkinsonism and other non-ataxia symptoms are more commonly present in SCA6 patients than we used to think.
2. Parkinsonism is associated with the loss of DAT in striatum.
3. Parkinsonism and other non-ataxia symptoms are also associated with the expanded
Pilot Study of Safety and Efficacy of Sodium Phenylbutyrate in Spinocerebellar Ataxia Type 3
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Safety and Efficacy of Lithium Carbonate in Patients With Spinocerebellar Ataxia Type 3
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RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7
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Study to Determine the Safety and Tolerability of Varenicline (Chantix®) in Treating Spinocerebellar Ataxia Type 3
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