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

Abstract

We report two large, unrelated families with spinocerebellar ataxia type 1 (SCA1) from the same village in the southeastern, mountain region of Serbia: Family 1 with 16, and Family 2 with nine affected members, identified in four consecutive generations. They significantly differ in the age at onset (31.8  10.7 and 45.0  8.4 years in Family 1 and Family 2, respectively; p<0.01), despite the lack of difference in the mean number of CAG trinucleotides in the ataxin-1 gene. Analysis of D6S337 haplotypes in SCA1-affected patients suggest that SCA1 expansions in these two families are not from the same origin. Similarity of the length of CAG repeat expansions in the ataxin-1 gene in these two unrelated families, as well as the similarity of environmental factors, suggests that some other, unknown genetic factor(s), could contribute to the variability of the age at onset of SCA1.

Key words: age at onset, ataxin?1 gene, SCA1, trinucleotides, environmental factor(s)

 




Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006