title: [Clinical picture of patients with Huntington's disease in relation to the number of trinucleotide CAG repeats in IT-15 gene].
abstract: Huntington's disease (HD) is a neurological condition of progressive course that results from abnormally increased number of CAG repeats within IT-15 gene, coding for huntington. The main symptoms consist of choraetic movements, dementia, and characteropathy. The aim of the present study was to search for possible correlation between the age of the onset of HD, time from the onset, clinical status of the patients, and CAG repeats number. Ten patients were studied altogether. Modified UHDRS (MUHDRS) was applied for the estimation of patients' clinical status. The number of CAG repeats in examination of the IT-15 gene was determined by polymerase chain reaction (PCR) and separation of radioisotope labelled PCR product against DNA size marker in polyacrylamide gel. A negative significant correlation was found between the CAG repeats number and the disease onset age (r = -0.67; p < 0.05) and MUHDRS score (r = 0.75; p < 0.05), as well. Negative significant correlation between time from the onset and MUHDRS score (r = -0.95; p < 0.05) and negative correlation between summarised: time from the onset and CAG number on the one site and MUHDRS on the other (p = -0.91) were found, as well. Our findings indicate an interdependence between CAG repeats number within the IT-15 gene, the course of the disease and the clinical status of HD patients.
authors.affiliation: Katedry i Kliniki Neurologii Akademii Medycznej im. Karola Marcinkowskiego w Poznaniu. Daniel.Zielonka@wp.pl
authors.forename: Daniel
authors.initials: D
authors.lastname: Zielonka
authors.forename: Mateusz
authors.initials: M
authors.lastname: de Mezer
authors.forename: Adam
authors.initials: A
authors.lastname: Niezgoda
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Reperowicz
authors.forename: Włodzimierz
authors.initials: W
authors.lastname: Krzyzosiak
authors.forename: Wojciech
authors.initials: W
authors.lastname: Kozubski
mesh_terms: D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000235:genetics; D002648:Child; D003545:Cysteine / Q000235:genetics; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D012720:Severity of Illness Index; D013997:Time Factors; D018911:Trinucleotide Repeats
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D003545:Cysteine; D000409:Alanine; D005998:Glycine