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Friedreich's ataxia: from the patient to the gene.

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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]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Friedreich's ataxia: from the patient to the gene.
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  Data: 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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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: May2001 Supplement 1
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