Context Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar degeneration
caused by an expanded CAG repeat on chromosome 14q32.1, is a heterogeneous …

Fabry disease is an X-linked inborn error of glycosphingolipid catabolism due to deficient
activity of α-galactosidase A that leads to accumulation of the enzyme substrates, mainly …

Background Machado-Joseph disease is the most frequent dominant ataxia worldwide.
Despite its frequency and presence in many populations, only 2 founder mutations have been …

Expanded polyglutamine (polyQ) stretches in at least nine unrelated proteins lead to inherited
neuronal dysfunction and degeneration. The expansion size in all diseases correlates …

Objective In spinocerebellar ataxia type 3/Machado‐Joseph disease (SCA3/MJD), the expanded
cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length …

Objective To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on
age at onset of Machado-Joseph disease (MJD). Design We collected blood samples from …

Oculomotor deficits are common in hereditary ataxia, but disproportionally neglected in clinical
ataxia scales and as outcome measures for interventional trials. Quantitative assessment …

Background and purpose In spinocerebellar ataxia type 3/Machado–Joseph disease ( SCA
3/ MJD ), the length of CAG repeat expansions in ATXN 3 shows an inverse correlation with …

Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide
therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic …

Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for
Huntington's disease (HD) becomes more available in previously resource-limited regions, …