Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inherited ataxias, MJD/SCA3 shows remarkable clinical heterogeneity, reflecting the underlying genetic defect: an unstable CAG trinucleotide repeat that varies in size among affected persons. This pathogenic repeat in MJD/SCA3 encodes an expanded tract of the amino acid glutamine in the disease protein, which is known as ataxin-3. MJD/SCA3 is one of nine identified polyglutamine neurodegenerative diseases which share features of pathogenesis centered on protein misfolding and accumulation. The specific properties of MJD/SCA3 and its disease protein are discussed in light of what is known about the entire class of polyglutamine diseases.
Machado - Joseph disease ( MJD ) , also known as spinocerebellar ataxia type 3 ( SCA3 ) , may be the most common dominantly inherited ataxia in the world . Here I will review historical , clinical , neuropathological , genetic , and pathogenic features of MJD , and finish with a brief discussion of present , and possible future , treatment for this currently incurable disorder . Like many other dominantly inherited ataxias , MJD / SCA3 shows remarkable clinical heterogeneity , reflecting the underlying genetic defect : an unstable CAG trinucleotide repeat that varies in size among affected persons . This pathogenic repeat in MJD / SCA3 encodes an expanded tract of the amino acid glutamine in the disease protein , which is known as ataxin-3 . MJD / SCA3 is one of nine identified polyglutamine neurodegenerative diseases which share features of pathogenesis centered on protein misfolding and accumulation . The specific properties of MJD / SCA3 and its disease protein are discussed in light of what is known about the entire class of polyglutamine diseases .
Which is the protein implicated in Spinocerebellar ataxia type 3?
Which is the protein implicated in Spinocerebellar ataxia type 3 ?
Ataxin-3
Ataxin-3