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Spinobulbar muscular atrophy

Trinucleotide sequences that increase in number (microsateUite instability) can cause disease. The unstable p(CGG) repeat sequence is associated with the fragile X syndrome. Other trinucleotide repeats that undergo dynamic mutation (usually an increase) are associated with Huntington s chorea (CAG), myotonic dystrophy (CTG), spinobulbar muscular atrophy (CAG), and Kennedy s disease (CAG). [Pg.322]

Kennedy s disease/ spinobulbar muscular atrophy [6,7] AR Xql3-21 not determined 9-36... [Pg.779]

Huntington disease (HD) is the prototypic disease caused by expansion of unstable GAG repeat. It primarily affects striatal neurons. It is a mid-life onset disorder characterized by unvoluntary movements (chorea), personality changes and dementia that progress to death within 10-20 years of onset. There are currently no treatment to delay or prevent appearance of the symptoms in the patients. Other diseases in this class include spinocerebellar ataxias (SCA) 1, 2, 3 (also known as Machado-Joseph disease, MJD), 6, and 7, DRPLA, and spinobulbar muscular atrophy (SMA, also known as Kennedy s disease) (Zoghbi and Orr 2000). [Pg.271]

Spinobulbar muscular atrophy (Kennedy disease SBMA) (CAG) XR Atrophin (androgen receptor)... [Pg.1515]

Spinobulbar muscular atrophy Xqll-12 CAG 11-31 40-62 Androgen receptor... [Pg.13]

Keywords Cerebellar ataxias Dentatorubral pallidoluysian atrophy Fragile X syndrome Friedreich ataxia Huntington disease Myotonic dystrophy Spinobulbar muscular atrophy Trinucleotide expansion diseases... [Pg.320]

Spinobulbar Muscular Atrophy (SBMA Kennedy Disease). 330... [Pg.321]

Spinobulbar muscular atrophy (SBMA, Kennedy disease) AR Xq 13-21 Androgen receptor (AR) 9-36 38-62 n,c... [Pg.329]

Abnormal numbers of CAG repeats in the NTD also are associated with certain diseases. The CAG repeats encode for a polyglutamine tract that begins at amino acid 58 in AR, and normally includes between 11 and 33 residues. Spinobulbar muscular atrophy (Kennedy s disease) is caused by expansion of these repeats leading to lengthening ofthe polyglutamine tract [29]. Likewise, some studies suggest that shorter... [Pg.252]

See other pages where Spinobulbar muscular atrophy is mentioned: [Pg.48]    [Pg.112]    [Pg.1516]    [Pg.319]    [Pg.321]    [Pg.6]    [Pg.390]    [Pg.6]    [Pg.390]    [Pg.462]    [Pg.603]    [Pg.582]   
See also in sourсe #XX -- [ Pg.1516 ]

See also in sourсe #XX -- [ Pg.332 ]



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Muscular atrophy

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