Table 1 A summary of the nine inherited polyglutamine repeat disorders.
From: Nuclear accumulation of polyglutamine disease proteins and neuropathology
Disease | Disease protein | Normal subcellular localization | Affected brain regions |
|---|---|---|---|
Huntington's disease (HD) | Huntingtin (htt) | Cytoplasm | Striatum and cortex |
Spinocerebellar ataxia 1 (SCA1) | Ataxin-1 | Nuclear and cytoplasmic | Cerebellum |
Spinocerebellar ataxia 2 (SCA2) | Ataxin-2 | Cytoplasmic | Cerebellar Purkinje cells |
Spinocerebellar ataxia 3 (SCA3) | Ataxin-3 | Nuclear and cytoplasmic | Ventral pons and substantia nigra |
Dentatorubral-pallidoluysian atrophy (DRPLA) | Atrophin-1 | Nuclear and cytoplasmic | Cerebral cortex |
Spinocerebellar ataxia 6 (SCA6) | Ataxin-6 | Membrane associated | Cerebellar Purkinje cells |
Spinocerebellar ataxia 7 (SCA7) | Ataxin-7 | Nuclear and cytoplasmic | Cerebellar Purkinje cells, brain stem, spinal cord |
Spinal and bulbar muscular atrophy (SBMA) | Androgen receptor (AR) | Nuclear and cytoplasmic | Motor neurons |
Spinocerebellar ataxia 17 (SCA17) | TBP | Nuclear | Cerebellar Purkinje cells |