MOLECULAR ANALYSIS OF FRIEDREICH’S ATAXIA IN MACEDONIAN PATIENTS
Kocheva S1,2, Trivodalieva S1, Vlaski-Jekic S3, Kuturec M2, Efremov GD1,*
*Corresponding Author: Professor Dr. Georgi D. Efremov, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Aven Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel: +3892-120253; Fax: +3892-115434; E-mail:gde@manu.edu
page: 61

REFERENCES

 

  1. Pandolfo M. Molecular genetics and pathogenesis of Friedreich ataxia. Neuromuscul Disord 1998; 8(6): 409-415.

  2. Skre H. Friedreich’s ataxia in Western Norway.Clin Genet 1975; 7(4): 287-298.

  3. Winter RM, Harding AE, Baraitser M, Bravery MB. Intrafamilial correlation in Friedreich’s ataxia. Clin Genet 1981; 20(6): 419-427.

  4. Filla A, De Michele G, Marconi R, Bucci L,Carillo C, Castellano AE, Iorio L, Kniahynicki C,Rossi F, Cam panella G. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992; 239(6): 351-353.

  5. Epplen C, Epplen JT, Frank G, Miterski B,Santos EJM, Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene.Hum Genet 1997; 99(6): 834-836.

  6. Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104(3): 589-620.

  7. Harding AE, Hewer RL. The heart disease of Fried reich’s ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardio graphic changes in 30 cases. Q JMed 1983; 52(208): 489-502.

  8. Finocchiaro G, Baio G, Micossi P, Pozza G,Di Donato S. Glucose metabolism alterations in Friedreich’s ataxia. Neurology 1988; 38(8), 1292-1296.

  9. Campuzano V, Montermini L, Moltò MD,Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Canizares J,Koutnikova H, Bidi chandani SI, Gellera C, Brice A,Trouillas, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel J-L, Cocozza S,Koenig M, Pandolfo M. Fried reich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996; 271(5254):1423-1427.

  10. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996; 59(3): 554-560.

  11. Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M. Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci USA 1997; 94(14): 7452-7457.

  12. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Fau cheux B, Trouillas P, Authier FJ, Durr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997; 6(11): 1771-1780.

  13. Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. The Friedreich ataxia GAA triplet repeat: pre mutation and normal alleles. Hum Mol Genet 1997; 6(8): 1261-1266.

  14. Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997; 17(2): 215- 217.

  15. De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, Calabrese O. Late onset Friedreich’s disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994; 57(8): 977-979.

  16. Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, Smeyers P, Lopez-Arlandis J, Cam panella G, Di Donato S, Filla A. Earlyonset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich’s ataxia locus on chromosome 9q. Ann Neurol 1995; 37(3): 359-362.

  17. Efremov G.D, Dimovski A.J, Plaseska- Karanfilska D, Simjanovsa L, Sukarova E, Koceva S, Popovski Z. Laboratory Manual, 2nd ed. 1998. ICGEB Affilated Center “Nucleic acid based methods in human and veterinary medicine.” Skopje: Macedonian Academy of Sciences and Arts, 1998.




Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
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