The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease

Jiří Klempíř; Jana Zidovská; Jan Stochl; Věra Kebrdlová Ing; Tereza Uhrová; Jan Roth

doi:10.1002/mds.23436

The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease

Jiří Klempíř, Jana Zidovská, Jan Stochl, Věra Kebrdlová Ing, Tereza Uhrová, Jan Roth

Health Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P

Original language	English
Pages (from-to)	125-9
Number of pages	5
Journal	Movement disorders : official journal of the Movement Disorder Society
Volume	26
Issue number	1
DOIs	https://doi.org/10.1002/mds.23436
Publication status	Published - Jan 2011

Bibliographical note

Keywords

Adolescent
Adult
Age of Onset
Aged
Czech Republic
Female
Gene Frequency
Genotype
Humans
Huntington Disease
Logistic Models
Male
Middle Aged
Nerve Tissue Proteins
Nuclear Proteins
Proportional Hazards Models
Trinucleotide Repeats
Young Adult

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10.1002/mds.23436

Cite this

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title = "The number of CAG repeats within the normal allele does not influence the age of onset in Huntington's disease",

abstract = "Huntington's disease (HD) is caused by the expansion of the number of CAG repeats on the chromosome 4p16.3, which results in elongated glutamine tract of huntingtin. The purpose of this work was to examine the interaction between the normal and mutant alleles of this gene and their effect on the clinical onset of HD. We hypothesized that in patients with identical number of CAG repeats within the mutant allele, the age of onset of HD is influenced by the number of CAG repeats within the normal allele. We analyzed the relations between the number of CAG repeats within the normal and mutant alleles, the age at HD onset, and the character of initial symptoms in 468 patients with clinically expressed HD. Although the Cox regression coefficient of 0.15 was significant (P ",

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AU - Klempíř, Jiří

AU - Zidovská, Jana

AU - Stochl, Jan

AU - Ing, Věra Kebrdlová

AU - Uhrová, Tereza

AU - Roth, Jan

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KW - Czech Republic

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KW - Genotype

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KW - Logistic Models

KW - Male

KW - Middle Aged

KW - Nerve Tissue Proteins

KW - Nuclear Proteins

KW - Proportional Hazards Models

KW - Trinucleotide Repeats

KW - Young Adult

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