Bibliographic Details
| Title: |
Friedreich's ataxia: from the patient to the gene. |
| Authors: |
Filla, A., Cocozza, S., De Michele, G. |
| Source: |
Neurological Sciences. May2001 Supplement 1, Vol. 22, pS21. 5p. 1 Diagram, 1 Graph. |
| Subjects: |
Friedreich's ataxia, Pathological physiology |
| Abstract: |
A GAA expansion in the first intron of the X25 gene is present in 98% of Friedreich's ataxia chromosomes. A point mutation is present in the remaining 2%. A direct correlation between the size of the smaller expanded allele and disease severity is present in patients homozygous for the GAA expansion. The abnormal GAA expansion inhibits the expression of the X25 gene, causing at homozygous state a severe decrease of frataxin. Frataxin has a mitochondrial localization and may be involved in iron handling. The expanded alleles show intergenerational instability with a trend to contraction and a sex bias. The mapping and cloning of the X25 gene have resulted in expansion of the phenotype, and forms with late onset and retained reflexes have been identified. [ABSTRACT FROM AUTHOR] |
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| Database: |
Psychology and Behavioral Sciences Collection |
