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dc.contributor.authorİnce Günal, Dilek
dc.contributor.authorGüleryüz, Meliha
dc.contributor.authorAktan, Sevinç
dc.date.accessioned2016-06-24T06:59:32Z
dc.date.available2016-06-24T06:59:32Z
dc.date.issued2000
dc.identifier.urihttp://hdl.handle.net/11424/4760
dc.description.abstractObjective: Huntington's Disease is a progressive degenerative disorder having an expanded triplicate repeat in the gene IT-15 on chromosome 4. The interrelation between the trinucleotide repeat length and disease progression was studied. Methods: Five patients included in the study were evaluated by "Quantified staging of functional capacity for Huntington's Disease patients” and age of disease onsets were determined. Progression rate was calculated and interrelationship between age of disease onset and repeat length; progression rate and repeat length were studied. Results: We found a statistically significant negative correlation between age of disease onset and trinucleotide repeat length (pearson r=-0.9514 p<0.05). There was a statistically significant positive correlation between CAG repeat length and progression rate (pearson r=0.8809, p<0.05). Conclusion: Our study, conducted with a very limited number of patients, revealed the correlation between trinucleotide repeat length and disease progression. It like few similar studies in the literature, gave an impression of the important pathophysiological role of expanded CAG repeat during the entire course of the disease.en_US
dc.language.isoengen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHuntington's Disease, progression rate, trinucleotide repeat, prognosis.en_US
dc.titleTrinucleotide repeat length and clinical progression in huntington's diseaseen_US
dc.typearticleen_US
dc.contributor.authorIDTR119127en_US
dc.relation.journalMarmara Medical Journalen_US
dc.identifier.volume13en_US
dc.identifier.issue1en_US
dc.identifier.startpage19en_US
dc.identifier.endpage21en_US


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