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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
  1. Included are the polyQ proteins, their normal subcellular localization, and affected brain regions.