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A summary of the nine inherited polyglutamine repeat disorders. |
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| Disease |
Disease protein |
Normal subcellular localization |
Affected brain regions |
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| Huntington's disease (HD) |
Huntingtin (htt) |
Cytoplasm |
Striatum and cortex |
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| Spinocerebellar ataxia 1 (SCA1) |
Ataxin-1 |
Nuclear and cytoplasmic |
Cerebellum |
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| Spinocerebellar ataxia 2 (SCA2) |
Ataxin-2 |
Cytoplasmic |
Cerebellar Purkinje cells |
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| Spinocerebellar ataxia 3 (SCA3) |
Ataxin-3 |
Nuclear and cytoplasmic |
Ventral pons and substantia nigra |
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| Dentatorubral-pallidoluysian atrophy (DRPLA) |
Atrophin-1 |
Nuclear and cytoplasmic |
Cerebral cortex |
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| Spinocerebellar ataxia 6 (SCA6) |
Ataxin-6 |
Membrane associated |
Cerebellar Purkinje cells |
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| Spinocerebellar ataxia 7 (SCA7) |
Ataxin-7 |
Nuclear and cytoplasmic |
Cerebellar Purkinje cells, brain stem, spinal cord |
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| Spinal and bulbar muscular atrophy (SBMA) |
Androgen receptor (AR) |
Nuclear and cytoplasmic |
Motor neurons |
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| Spinocerebellar ataxia 17 (SCA17) |
TBP |
Nuclear |
Cerebellar Purkinje cells |
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Included are the polyQ proteins, their normal subcellular localization, and affected brain regions. | |||
Havel et al. Molecular Brain 2009 2:21 doi:10.1186/1756-6606-2-21 |
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