Fragile X Tremor Ataxia Syndrome

An ataxia caused by expanded TRINUCLEOTIDE REPEATS in the FMR1 gene on the X chromosome. Occurs predominantly in men over 50 years of age. In addition to ataxia, TREMOR, brain atrophy, and DEMENTIA also occur. OMIM: 300623

Also Known As:

FXTAS Fragile X Tremor Ataxia Syndrome; Fragile X-Associated Tremor Ataxia Syndrome; Fxtas

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Tremor: 7596
      - Fragile X Tremor Ataxia Syndrome: 310
    - Ataxia: 6364
      - Fragile X Tremor Ataxia Syndrome: 310
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Fragile X Syndrome: 1664
        Fragile X Tremor Ataxia Syndrome: 310
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Tremor: 7596
        Fragile X Tremor Ataxia Syndrome: 310
      - Ataxia: 6364
        Fragile X Tremor Ataxia Syndrome: 310
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1664
        Fragile X Tremor Ataxia Syndrome: 310
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Sex Chromosome Disorders: 5
      - Fragile X Syndrome: 1664
        Fragile X Tremor Ataxia Syndrome: 310
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Fragile X Syndrome: 1664
        Fragile X Tremor Ataxia Syndrome: 310
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Fragile X Syndrome: 1664
        Fragile X Tremor Ataxia Syndrome: 310

Pascal Eberling Selected Research

Pascal Eberling Research Topics

Disease

Drug/Important Bio-Agent (IBA)