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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral...
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Machado Joseph-Disease Is Rare in the Peruvian Population
Spinocerebellar ataxia type 3 or Machado-Joseph disease (MJD/SCA3) is the most prevalent autosomal dominant cerebellar ataxia worldwide, but its...
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“I Do Not Know How You Feel and How I Feel About That”: Mentalizing Impairments in Machado-Joseph Disease
Machado Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disease. Mentalizing is...
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Horizontal Vestibulo-Ocular Reflex Deficit as a Biomarker for Clinical Disease Onset, Severity, and Progression of Machado-Joseph Disease
Because of the crucial importance of finding a useful biomarker for further clinical trials in Machado-Joseph disease (MJD), and based on our...
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Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging...
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Short Communication: Restrictions in care following the COVID-19 pandemic severely impacted Machado-Joseph disease patients: a study in the Azores Islands, Portugal
This qualitative study describes how the restrictions imposed by the COVID-19 pandemic impacted on Machado-Joseph disease (MJD) patients and their...
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Caffeine Consumption and Interaction with ADORA2A, CYP1A2 and NOS1 Variants Do Not Influence Age at Onset of Machado-Joseph Disease
BackgroundThe age at onset (AO) of Machado-Joseph disease (SCA3/MJD), a disorder due to an expanded CAG repeat (CAGexp) in ATXN3 , is quite variable...
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Diagnostic Delay of Hereditary Ataxias in Brazil: the Case of Machado-Joseph Disease
BackgroundSpinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a rare disease with diagnosis offered by the Unified Health System in...
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KPNB1 modulates the Machado–Joseph disease protein ataxin-3 through activation of the mitochondrial protease CLPP
Machado–Joseph disease (MJD) is characterized by a pathological expansion of the polyglutamine (polyQ) tract within the ataxin-3 protein. Despite its...
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Altered glucose metabolism and its association with carbonic anhydrase 8 in Machado-Joseph Disease
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disease. This disorder...
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Neuropeptide Y (NPY) intranasal delivery alleviates Machado–Joseph disease
Machado–Joseph disease (MJD) is the most common dominantly-inherited ataxia worldwide with no effective treatment to prevent, stop or alleviate its...
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Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Although health-related quality of life (HRQoL) has been increasingly valued in healthcare and in clinical trials, there is scarce information about...
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Genetic Variation in ATXN3 (Ataxin-3) 3′UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3
Untranslated regions are involved in the regulation of transcriptional and post-transcriptional processes. Characterization of these regions remains...
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Brain structural abnormalities in the preclinical stage of Machado–Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3): evaluation by MRI morphometry, diffusion tensor imaging and neurite orientation dispersion and density imaging
ObjectiveTo investigate whether neurite orientation dispersion and density imaging (NODDI) could provide the added value for detecting brain...
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Trehalose in Machado-Joseph Disease: Safety, Tolerability, and Efficacy
Machado-Joseph disease (MJD) is relatively prevalent among the Yemenite Jewish subpopulation living in Israel. Currently, there is no treatment able...
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Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease
PurposeMachado-Joseph disease (MJD/SCA3) is the most frequent spinocerebellar ataxia worldwide. Pathological studies revealed less melanin-containing...
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Mesenchymal stem cell-derived exosomes improve motor function and attenuate neuropathology in a mouse model of Machado-Joseph disease
BackgroundMachado-Joseph disease is the most common autosomal dominant hereditary ataxia worldwide without effective treatment. Mesenchymal stem...
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Trehalose alleviates the phenotype of Machado–Joseph disease mouse models
BackgroundMachado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide...
