Related MeSH Hierarchy (5)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Cerebellar Diseases » Spinocerebellar Degenerations » Friedreich Ataxia
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Spinal Cord Diseases » Spinocerebellar Degenerations » Friedreich Ataxia
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Spinocerebellar Degenerations » Friedreich Ataxia
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Spinocerebellar Degenerations » Friedreich Ataxia
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Mitochondrial Diseases » Friedreich Ataxia
Description
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) MeSH
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