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Machado-Joseph Disease

Ikeda H, Yamaguchi M, Sugai S, Aze Y, Narumiya S, Kakizuka A. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat Genet 1996 13 196-202. [Pg.281]

Durr, A., Stevanin, G., Cancel, G. et al Spinocerebellar ataxia 3 and Machado-Joseph disease clinical, molecular and neuropathological features. Ann. Neurol. 39 490-499, 1996. [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]

Machado-Joseph disease 14q32.1 CAG Paternal 13-36 68-79 Ataxin 3... [Pg.13]

Spinocerebellar Ataxia Type 3 (SCA3 Machado-Joseph Disease). 332... [Pg.321]

Spinocerebellar ataxia type 3 (SCA3, Machado-Joseph disease) SCA3 (MIDI) 14q32.1 Ataxin-3 12-40 45-84 n,c... [Pg.329]

Spinocerebellar alaxia 3 (SCA3) (Machado-Joseph disease)... [Pg.390]

Encephalopathy with unconsciousness has been reported in a 48-year-old woman with Machado-Joseph disease after the administration of fleroxacin (200 mg/day) for 3 days (32). She recovered after withdrawal. The serum and cerebrospinal fluid concentrations of fleroxacin were within normal limits. [Pg.1398]

Kimura M, Fujiyama J, Nagai A, Hirayama M, Kuriyama M. [Encephalopathy induced by fleroxacin in a patient with Machado-Joseph disease.] Rinsho Shinkeigaku 1998 38(9) 846-8. [Pg.1404]

Machado-Joseph disease CAG 12-37 unaffected 61-84 affected Spasticity, dystonia... [Pg.561]

Spinocerebellar ataxia type 1 (SCAl), Spinocerebellar ataxia type 2 (SCA2), Spinocerebellar ataxia type 3 (SCA3) (Machado Joseph Disease) Spinocerebellar ataxia type 7 (SCA7)... [Pg.11]

See other pages where Machado-Joseph Disease is mentioned: [Pg.268]    [Pg.334]    [Pg.742]    [Pg.250]    [Pg.1515]    [Pg.319]    [Pg.352]    [Pg.355]    [Pg.4]    [Pg.231]    [Pg.390]    [Pg.393]    [Pg.4]    [Pg.231]    [Pg.390]    [Pg.393]    [Pg.561]    [Pg.602]    [Pg.581]   
See also in sourсe #XX -- [ Pg.334 ]

See also in sourсe #XX -- [ Pg.231 ]

See also in sourсe #XX -- [ Pg.231 ]

See also in sourсe #XX -- [ Pg.561 ]



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