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polyglutamine expansion disorder
Genetic disorders associated with CAG trinucleotide repeat expansions.
Specific
dentatorubral-pallidoluysian atrophy (DRPLA)
Huntington disease-like type 2
Huntington's disease; Huntington's chorea (progressive hereditary chorea)
olivopontocerebellar atrophy type 1 (Menzel type); spinocerebellar ataxia type 1 (SCA-1)
spinocerebellar ataxia type 17 (SCA-17)
spinocerebellar ataxia type 2 (SCA-2); olivopontocerebellar atrophy, Holguin type
spinocerebellar ataxia type 3 (SCA-3); Machado-Joseph disease; Azorean disease
spinocerebellar ataxia type 6 (SCA-6)
spinocerebellar ataxia type 7 (SCA-7); olivopontocerebellar atrophy type 3 (retinal degeneration)
X-linked bulbospinal muscular atrophy (Kennedy's disease)
General
neurodegenerative disease
trinucleotide repeat expansion disease
References
- Li & Li.
Trends Genet. 2004 Mar;20(3):146-54
PMID: 15036808