PS26. A HETEROGENEOUS GROUP OF DISORDERS: SPINOCEREBELLAR ATAXIAS GENETIC BASES AND MOLECULAR DIAGNOSES
Nazan Saner, A. NAZLI BAŞAK Boğaziçi University, Molecular Biology and Genetics Department; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory e-mail: basak@boun.edu.tr
*Corresponding Author:
page: 29

Abstract

Spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders that are inherited in an autosomal dominant manner. Population studies in certain geographical areas throughout the world indicate that the prevalence of SCA is 3/100 000. SCAs which are characterized by loss of balance and coordination, are progressive and late-onset disorders. Since the clinical symptoms of SCA subtypes significantly overlap, and since there is a high clinical variation even in each SCA subtype, the diagnosis of SCA patients, based on only clinical features, becomes difficult and complex. In this respect, the identification of the genetic etiology of SCAs is significant for understanding and classifying this group of disorders, and for definite diagnosis of patients. Today, molecular diagnosis of at least 12 autosomal dominant cerebellar ataxias with defined genes and mutations is possible. The increase in the number of new ataxia genes suggests the guidance of well-defined clinical signs, neuropathological findings, family history, age of onset and population-specific SCA prevalence in molecular diagnosis. Although there has been no established therapy to prevent the progression of SCA yet, molecular analysis is crucial for the confirmation of clinical diagnosis, the rough prediction of clinical course and family planning. Boğaziçi University experience reveals the importance of clinician–bench scientist cooperation and an intense dialogue for correct and definite SCA diagnosis.




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