Pediatric Neurology Briefs, 1994 A 22-year-old male of Portuguese Azorean descent, presenting at age 16 years with postural instability and falls and developing severe generalized dystonia by age 20 years, is reported from the Center for Research in Neurodegenerative Diseases ...
J Gordon Millichap
doaj +6 more sources
Profiling Microglia in a Mouse Model of Machado–Joseph Disease [PDF]
Biomedicines, 2022 Microglia have been increasingly implicated in neurodegenerative diseases (NDs), and specific disease associated microglia (DAM) profiles have been defined for several of these NDs.
Ana Bela Campos +13 more
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Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease [PDF]
Frontiers in Molecular Neuroscience, 2023 Lysine residues are one of the main sites for posttranslational modifications of proteins, and lysine ubiquitination of the Machado-Joseph disease protein ataxin-3 is implicated in its cellular function and polyglutamine expansion-dependent toxicity ...
Priscila Pereira Sena +13 more
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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 +5 more sources
Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? [PDF]
Frontiers in Genetics, 2019 Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1–5/100,000. To this date, two major ancestral lineages have been found throughout the world.
Tianjiao Li +22 more
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Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease [PDF]
Cells, 2023 Machado-Joseph disease (MJD) is a dominant neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene encoding the ataxin-3 protein. Several cellular processes, including transcription and apoptosis, are disrupted in MJD.
Ana F. Ferreira +10 more
doaj +2 more sources
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
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Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease [PDF]
Arquivos de Gastroenterologia, 2010 CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy.
Sabrina Mello Alves Corrêa +4 more
doaj +2 more sources
Recurrent divergence-insufficiency esotropia in Machado-Joseph disease (spinocerebellar ataxia type 3) [PDF]
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe a case of incomitant divergence insufficiency esotropia in the setting of Machado-Joseph disease (spinocerebellar ataxia type 3) that recurred completely within one week after augmented bilateral medial rectus recession. Observations:
Jeannette Y. Stallworth +2 more
doaj +2 more sources
The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research [PDF]
Biomedicines, 2023 Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. MJD is characterized by late-onset progressive cerebellar ataxia associated with variable clinical findings, including pyramidal ...
Manuela Lima +14 more
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