autosomal recessive 1 Spinocerebellar ataxia

A hereditary autosomal recessive spinocerebellar ataxia characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor PERIPHERAL NEUROPATHIES, and increased serum ALPHA-FETOPROTEIN. Associated with mutations in the SETX gene. OMIM: 606002

Also Known As:

Spinocerebellar ataxia, autosomal recessive 1; Ataxia with Oculomotor Apraxia; Ataxia-ocular apraxia 2; Ataxia-oculomotor apraxia 2; SCAN2; SCAR1; Spinocerebellar Ataxia with Axonal Neuropathy Type 2; Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84
- Neurologic Manifestations: 7223
  - Dyskinesias: 7933
    - Ataxia: 6487
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Cerebellar Ataxia: 1566
        Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84
      - Spinocerebellar Degenerations: 355
        Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Spinocerebellar Ataxias: 2124
        autosomal recessive 1 Spinocerebellar ataxia: 84

Xiao-Ping Cheng Selected Research

Xiao-Ping Cheng Research Topics

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