TRINUCLEOTIDE REPEAT LENGTH AND CLINICAL PROGRESSION IN HUNTINGTON'S DISEASE

Year 2000, Volume: 13 Issue: 1, 19 - 21, 03.12.2016

Dilek İnce Günal Meliha Güleryüz Sevinç Aktan

Abstract

Objective: 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.
Key Words: Huntington's Disease, progression
rate, trinucleotide repeat, prognosis.

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