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Machado-Joseph disease

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Machado-Joseph disease
[mächä′dō jō′səf]
Etymology: Machado and Joseph, afflicted families
a progressive degenerative disease of the central nervous system occurring in families of Portuguese-Azorean descent, having a variety of forms and inherited as an autosomal-dominant trait. There are four major types: Type I, with pyramidal and extrapyramidal deficits; Type II, with cerebellar, pyramidal, and extrapyramidal deficits; Type III, with cerebellar deficits and distal sensorimotor neuropathy; and Type IV, with parkinsonism and distal sensory neuropathy. Also called Azorean disease, Joseph disease, Portuguese-Azorean disease.
Machado-Joseph disease
Neurology An AD trinucleotide repeat disease characterized by progressive spinocerebellar ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia. See Trinucleotide repeat disease.
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Spinocerebellar Ataxia 3, also known as Machado-Joseph Disease (SCA3/MJD), is one of several inherited neurodegenerative disorders that are caused by the expression of mutant proteins containing an expanded polyglutamine (polyQ) region.
Effects of polyglutamine expansion on activity of ataxin-3, the ... by Travis, Sue M. / Generations
Machado-Joseph disease, a form of spino-cerebellar ataxia (with effects similar to Huntington's disease), that appears primarily in people of Portuguese-Azorean descent and is found with high frequency in southern Brazil.
Genetics in the service of the people: advances in genomics can--and ... by Andalo, Paula / Perspectives in Health
Paulson, and colleagues at the University of Iowa report results that will faciliate development of siRNA therapies for heritable diseases such as Machado-Joseph disease (MJD) and other dementias in which defective proteins clump together and impair brain and nervous system function.
Silencing of mutant genes with RNAi by Eubanks, Mary W. / Environmental Health Perspectives
 
 
 
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