Friedreich Ataxia

An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

Also Known As:

Friedreich's Ataxia; Disease, Friedreich's; Spinocerebellar Ataxia, Friedreich; Hereditary Spinal Sclerosis; Friedreich Familial Ataxia; Friedreich Hereditary Ataxia; Friedreich Hereditary Spinal Ataxia; Friedreich Spinocerebellar Ataxia; Friedreich's Disease; Friedreich's Familial Ataxia; Friedreich's Hereditary Ataxia; Friedreich's Hereditary Spinal Ataxia; Hereditary Spinal Ataxia, Friedreich; Hereditary Spinal Ataxia, Friedreich's; Ataxia, Friedreich; Ataxia, Friedreich Familial; Ataxia, Friedreich Hereditary; Ataxia, Friedreich Spinocerebellar; Ataxia, Friedreich's; Ataxia, Friedreich's Familial; Ataxia, Friedreich's Hereditary; Ataxias, Friedreich; Ataxias, Friedreich's Hereditary; Disease, Friedreich; Familial Ataxia, Friedreich; Familial Ataxia, Friedreich's; Friedreich Ataxias; Friedreich's Hereditary Ataxias; Friedreichs Familial Ataxia; Friedreichs Hereditary Ataxia; Hereditary Ataxia, Friedreich; Hereditary Ataxia, Friedreich's; Hereditary Ataxias, Friedreich's; Hereditary Spinal Scleroses; Scleroses, Hereditary Spinal; Spinal Scleroses, Hereditary; Spinal Sclerosis, Hereditary; Friedreich Disease; Sclerosis, Hereditary Spinal

Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Friedreich Ataxia: 1464
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Cerebellar Diseases: 647
      - Spinocerebellar Degenerations: 355
        Friedreich Ataxia: 1464
  - Spinal Cord Diseases: 4420
    - Spinocerebellar Degenerations: 355
      - Friedreich Ataxia: 1464
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Spinocerebellar Degenerations: 355
      - Friedreich Ataxia: 1464
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Mitochondrial Diseases: 22985
    - Friedreich Ataxia: 1464

Veronica J Buckle Selected Research

Veronica J Buckle Research Topics

Disease

Drug/Important Bio-Agent (IBA)