DIFFERENT AGE AT ONSET IN TWO PEDIGREES WITH SPINOCEREBELLAR ATAXIA TYPE 1 (SCA1) FROM THE SAME VILLAGE WITH SIMILAR LENGTH OF CAG EXPANSIONS IN THE SCA1 GENE
Svetel M1, Culjkovic B2, Stojkovic O2, Dragasevic N1, Stefanova E1, Romac S2, Kostic VS1
*Corresponding Author: Professor Vladimir S. Kostic, Institute of Neurology Clinical Center of Serbia, ul. Dr. Subotica 6, 11000 Belgrade, Yugoslavia; Tel: +381-11-685-554; Fax: +381-11-684-577; E-mail: kostic@ imi.bg.ac.yu
page: 7

REFERENCES

1. Orr HT, Chung M-y, Banfi S et al: Expansion of an unstable trinucleotide (CAG) repeat in spino-cerebellar ataxia type I. Nat Genet 1993; 4: 221-226.

2. Subramony SH, Vig PJS: Clinical aspects of spinocerebellar ataxia 1. In: Genetic Instabilities and Hereditary Neurological Diseases, Wells RD, Warren ST (eds). Academic Press, New York, 1998; pp 231-239.

3. Servadio A, Koshy B, Armstrong D, Antalfy B, Orr HT, Zoghbi HY: Expression analysis of the ataxin-1 protein in tissues from normal and spino-cerebellar ataxia type 1 individuals. Nat Genet 1995; 10: 94-98.

4. Culjkovic B, Stojkovic O, Vojvodic N et al: Correlation between triplet repeat expansion and computed tomography measures of caudate nuclei atrophy in Huntington’s disease. J Neurol 1999; 246: 1090-1093.

5. Culjkovic B, Stojkovic O, Savic D et al: Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population. Am J Med Genet 2000; 96: 884-887.

6. Joo EJ, Lee JH, Cannon TD, Price RA: Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23. Psychiatr Genet 1999; 9: 7-11.

7. Ranum LPW, Chung M-Y, Banfi S et al: Molecular and clinical correlations in spinocerebellar ataxia type I (SCA-1): evidence for familial effects on age of onset. Am J Hum Genet 1994; 55: 244-252.

8. Jodice C, Malaspina P, Persichettie F et al: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am J Hum Genet 1994; 54: 959-965.

9. Duborg O, Durr A, Cancel G et al: Analysis of the SCA-1 CAG repeat in a large number of families with dominant ataxia: clinical and molecular correlations. Ann Neurol 1995; 37: 176-180.

10. Snell RG, MacMillan JC, Cheadle JP et al: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 1993; 4: 393-397.

11. Matilla T, Volpini V, Genis D et al: Pre-symptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum Mol Genet 1993; 2: 2123-2128.

 




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