Friedreich's ataxia

Friedreich's ataxia is an autosomal recessive congenital ataxia that occurs rarely in the human population. It is caused by a mutation in Gene X25 that codes for frataxin, located on chromosome 9. It is named after Nikolaus Friedreich, a German doctor who described the disease in 1863.

Related Topics:
Ataxia - Autosomal - Recessive - Mutation - Gene - Frataxin - Chromosome - Nikolaus Friedreich - German - 1863

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Delatycki et al. (2000) provided an overview of the clinical features, pathology, molecular genetics, and possible therapeutic options in Friedreich ataxia.

Related Topics:
Delatycki - Pathology

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Friedreich's ataxia and muscular dystrophy, though often compared, are completely different diseases. Muscular dystrophy is the result of muscle tissue degeneration whereas Friedreich's ataxia is the result of nervous tissue degeneration (a trinucleotide repeat disorder). Both are researched by the Muscular Dystrophy Association.

Related Topics:
Muscular dystrophy - Trinucleotide repeat disorder - Muscular Dystrophy Association

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