KaydedilenlerDerginizi ekleyin

Dergiler / Marmara Medical Journal / 2000 / Cilt: 13 - Sayı: 1

TRINUCLEOTIDE REPEAT LENGTH AND CLINICAL PROGRESSION IN HUNTINGTON'S DISEASE

İnce Dilek GÜNAL
Meliha GÜLERYÜZ
Sevinç AKTAN
Sayfa
19–21
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

There was a statistically significant positivecorrelation between CAG repeat length andprogression rate (pearson r=0.8809, p<0.05).Conclusion: Our study, conducted with a very limitednumber of patients, revealed the correlation betweentrinucleotide repeat length and disease progression.It like few similar studies in the literature, gave animpression of the important pathophysiological role ofexpanded CAG repeat during the entire course of thedisease.Key Words: Huntington's Disease, progressionrate, trinucleotide repeat, prognosis.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Objective: Huntington's Disease is a progressivedegenerative disorder having an expanded triplicaterepeat in the gene IT-15 on chromosome 4.
📊
Temel Bulgular & Veri:Progression rate wascalculated and interrelationship between age ofdisease onset and repeat length; progression rate andrepeat length were studied.Results: We found a statistically significant negativecorrelation between age of disease onset andtrinucleotide repeat length (pearson r=-0.9514p<0.05).
💡
Sonuç & Katkı:There was a statistically significant positivecorrelation between CAG repeat length andprogression rate (pearson r=0.8809, p<0.05).Conclusion: Our study, conducted with a very limitednumber of patients, revealed the correlation betweentrinucleotide repeat length and disease progression.It like few similar studies in the literature, gave animpression of the important pathophysiological role ofexpanded CAG repeat during the entire course of thedisease.Key Words: Huntington's Disease, progressionrate, trinucleotide repeat, prognosis.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

Objective: Huntington's Disease is a progressivedegenerative disorder having an expanded triplicaterepeat in the gene IT-15 on chromosome 4. Theinterrelation between the trinucleotide repeat lengthand disease progression was studied.Methods: Five patients included in the study wereevaluated by "Quantified staging of functional capacityfor Huntington's Disease patients” and age of diseaseonsets were determined. Progression rate wascalculated and interrelationship between age ofdisease onset and repeat length; progression rate andrepeat length were studied.Results: We found a statistically significant negativecorrelation between age of disease onset andtrinucleotide repeat length (pearson r=-0.9514p<0.05). There was a statistically significant positivecorrelation between CAG repeat length andprogression rate (pearson r=0.8809, p<0.05).Conclusion: Our study, conducted with a very limitednumber of patients, revealed the correlation betweentrinucleotide repeat length and disease progression.It like few similar studies in the literature, gave animpression of the important pathophysiological role ofexpanded CAG repeat during the entire course of thedisease.Key Words: Huntington's Disease, progressionrate, trinucleotide repeat, prognosis.

🔖

Bu Makaleye Atıf Yap

GÜNAL, İ. D., GÜLERYÜZ, M., AKTAN, S. (2000). TRINUCLEOTIDE REPEAT LENGTH AND CLINICAL PROGRESSION IN HUNTINGTON'S DISEASE. Marmara Medical Journal, Cilt: 13 - Sayı: 1, 19–21. https://ajindex.com/articles/282582

Kaynakça (8)

  1. Folstein SE. Huntington s disease: a disorder of families. Baltimore: John Hopkins University Press, 1989:352-410.
  2. Gusella JE, Wexier MS, Conneally PM. A polymorphic DMA marker genetically linked to Huntington's disease. Mature 1983;306:234-238. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-983.
  3. Stine OC, Pleasant H, Franz ML. Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum Mol Genet 1993;2:154 7-1549.
  4. Zuhlke C, Riess O, Schroder K. Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet 1993;2:1467-1469.
  5. Illarioshkin SIT, Igasarhi S, Onodera O, Markova ED, nikolskaya HH, Tanaka H. Trinucleotide repeat length and rate of progression of Huntingtons disease. Ann Heurol 1994;36:630-635.
  6. Shoulson I, Fahn S. Huntington's disease: clinical care and evaluation, neurology 1979;29:1-3.
  7. Brandt J, Byslsma FW, Gross R, Stine OC, Ranen H, Ross CA. Trinucleotide repeat length and clinical progression in Huntington's disease, neurology 1996; 46:527-531.
  8. Apaydın H, Özekmekçi S, Akbaş F, Somay G, Bostancı A. Clinical and radiological features of three cases with genetically confirmed diagnosis of Huntington's disease. Parkinson Hast ve Hareket Bozukluğu Der 1998; 1:41-45.