What is the best way to keep walking and moving around for individuals with Machado-Joseph disease? A scoping review through the lens of Aboriginal families with Machado-Joseph disease in the Top End of Australia [PDF]
BMJ Open, 2019 Objectives Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide. Prevalence is highest in affected remote Aboriginal communities of the Top End of Australia.
Jennifer J Carr +7 more
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Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease [PDF]
Stem Cell Research & Therapy, 2020 Background Machado-Joseph disease is the most common autosomal dominant hereditary ataxia worldwide without effective treatment. Mesenchymal stem cells (MSCs) could slow the disease progression, but side effects limited their clinical application ...
Hua-Jing You +11 more
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Clinical Case ReportsWe report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia.
Enoch Chi Ngai Lim, Chi Eung Danforn Lim
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Familial spontaneous pneumothorax and Machado-Joseph disease. [PDF]
Oxf Med Case Reports, 2020 ABSTRACT We report the first known case of a 42-year-old man diagnosed with spinocerebellar ataxia type 3, also known as Machado–Joseph disease (MJD), who presented with recurrent spontaneous pneumothorax. Six other family members affected with MJD died of the same pulmonary complication. To date, there has been no direct genetic linkage
Pelayo J +3 more
europepmc +4 more sources
Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease
Frontiers in Neurology, 2013 Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj +3 more sources
State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change [PDF]
Genetics and Molecular Biology, 2019 Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment.
Gabriel Vasata Furtado +5 more
doaj +2 more sources
Sentinel Node Biopsy and Lumpectomy in a Patient with Machado–Joseph Disease [PDF]
Case Reports in Anesthesiology, 2019 Spinocerebellar ataxia 3 (SCA3), also known as Machado–Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time.
N. N. Aldawoodi +3 more
doaj +2 more sources
T2-hyperintensity in the internal globus pallidus in Machado-Joseph disease [PDF]
Arquivos de Neuro-Psiquiatria, 2023 Alex T. Meira +6 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
doaj +1 more source
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. [PDF]
PLoS ONE, 2014 Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of
Clévio Nóbrega +5 more
doaj +1 more source