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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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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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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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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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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...
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The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples
Blood-brain barrier (BBB) disruption is a common feature in neurodegenerative diseases. However, BBB integrity has not been assessed in...
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Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor
In 1994, a kindred from Yemen was described as the first Jewish family with Machado–Joseph disease (MJD/SCA3), a dominant ataxia caused by the...
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Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Spinocerebellar ataxia type 3, or Machado–Joseph disease (SCA3/MJD), is caused by an expansion of CAG repeats, which is inversely correlated to age...
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Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD...
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Antisense Oligonucleotide Therapy Against SCA3
Spinocerebellar ataxia type 3 (SCA3), also known as Machado Joseph disease, is a dominantly inherited neurodegenerative disease that has remained, to...
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The Ubiquitin–Proteasome System and Cerebellar Developmental Disease
A variety of developmental diseases of the cerebellum are associated with the dysregulation of proteins regulated by the ubiquitin–proteasome system...