Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …

The expansion of repeated sequences is the cause of over 30 inherited genetic diseases,
including Huntington disease, myotonic dystrophy (types 1 and 2), fragile X syndrome, many …

Patients with spinocerebellar ataxia 3 (SCA3) and Machado‐Joseph disease (MJD) carry an
expanded CAG repeat in the MJDl gene. One hundred twenty families of different …

Prior studies describing the relationship between CAG size and the age at onset of
Huntington disease (HD) have focused on affected persons. To further define the …

Recently, we identified a novel gene, MJD1, which contains an expanded GAG triplet repeat
in Machado–Joseph disease. Here we report the induction of apoptosis in cultured cells …

Moyamoya disease is characterized by bilateral stenosis and/or occlusion of the terminal
portion of the internal carotid artery. Moyamoya disease is prevalent among patients< 10 …

The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is
caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. The clinical …

Abstract Machado-Joseph Disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), represents the most common form of SCA worldwide. MJD is an autosomal …

Abstract Spinocerebellar ataxia 2 (SCA2) is caused by the expansion of an unstable CAG
repeat encoding a polyglutamine tract. One hundred and eighty four index patients with …

Objective To assess the frequency of SCA1 (spinocerebellar ataxia type 1), SCA2,
SCA3/MJD (spinocerebellar ataxia type 3/Machado-Joseph disease), SCA6, SCA7, and …