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)
    

concept

Heterogeneity of linkage data for Friedreich's ataxia and the spontaneous antigens / by R.A. Fisher.

On sclerosis of the spinal cord : including locomotor ataxy, spastic spinal paralysis, and other system-diseases of the spinal cord: their pathology, symptoms, diagnosis, and treatment / by Julius Althaus.

Spinocerebellar degenerations : proceedings of the International Symposium on Spinocerebellar Degenerations held October 12-14, 1978, Tokyo / edited by Itsuro Sobue.

Klinische und erbbiologische Untersuchungen über die Heredoataxien / von Torsten Sjögren.

The right to hope.

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Friedreich Ataxia

Catalogue

Heterogeneity of linkage data for Friedreich's ataxia and the spontaneous antigens / by R.A. Fisher.

On sclerosis of the spinal cord : including locomotor ataxy, spastic spinal paralysis, and other system-diseases of the spinal cord: their pathology, symptoms, diagnosis, and treatment / by Julius Althaus.

Spinocerebellar degenerations : proceedings of the International Symposium on Spinocerebellar Degenerations held October 12-14, 1978, Tokyo / edited by Itsuro Sobue.

Klinische und erbbiologische Untersuchungen über die Heredoataxien / von Torsten Sjögren.

The right to hope.