Spinocerebellar Ataxia 17

An autosomal dominant spinocerebellar ataxia that is caused by expanison of TRINUCLEOTIDE REPEATS in the TATA-BOX BINDING PROTEIN (TBP) gene. It is phenotypically similar to HUNTINGTON DISEASE; affected individuals may experience ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. OMIM: 607136

Also Known As:

HDL4 Huntington Disease-Like 4; Huntington Disease-Like 4; SCA17 Spinocerebellar Ataxia 17

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23
      - Spinocerebellar Degenerations: 355
        Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        Spinocerebellar Ataxia 17: 23

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Disease

Drug/Important Bio-Agent (IBA)