Low predisposition to instability of the Friedreich ataxia gene in Cuban population

Clinical Genetics

Volumn 77, Issue 6, 2010, Pages 598-600

  Marino T C ^a   Zaldivar, Y G ^b   Mesa, J M L ^b   Mederos, L A ^b   Rodriguez R A ^b   Gotay, D A ^b   Labrada, R R ^b   Ochoa, N C ^b   MacLeod, P ^c   Perez L V ^b  

^a Center of Medical Genetics and Primary Health Care   (Armenia)

^b Centro para la Investigacion y Rehabilitacion de las Ataxias Hereditarias Cuba   (Cuba)

^c QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; FRATAXIN; IRON BINDING PROTEIN;

ALLELE; ATAXIA; CAUCASIAN; CHROMOSOME ANALYSIS; CUBA; ETHNICITY; FEMALE; FRIEDREICH ATAXIA; GEL ELECTROPHORESIS; GENE MUTATION; GENETIC PREDISPOSITION; HISPANIC; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; POPULATION; PREVALENCE; PRIORITY JOURNAL; ETHNOLOGY; GENETICS; TRINUCLEOTIDE REPEAT;

CUBA; FRIEDREICH ATAXIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IRON-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77953950389     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01361.x     Document Type: Letter

References (18)

1. Guanche J. Componentes étnicos nación cubana 1997, Havana, IL, Fundación Fernando Ortiz
2. Velázquez PL, Sánchez CG, Santos FN. Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguín. Neurosci Lett 2009, 454:157-160.
3. Trouillas P, Takayanagi T, Hallett M. International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 1997, 145:205-211.
4. Schmitz HT, Tezenas MS, Baliko L. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006, 66:1717-1720.
5. http://www.one.cu/aec2008.htm, Anuario Estadístico de Cuba 2008. Available (Last visited January 14th 2010).
6. Monros E, Molto MD, Martinez F. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997, 61:101-110.
7. Koht J, Tallaksen CM. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand Suppl 2007, 187:76-79.
8. Juvonen V, Kulmala SM, Ignatius J. Dissecting the epidemiology of a trinucleotide repeat disease-example of FRDA in Finland. Hum Genet 2002, 110:36-40.
9. Gómez M, Clark RM, Nath SK. Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population. Genomics 2004, 84(5):779-784.
10. Labuda M, Labuda D, Miranda C. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 2000, 54:2322-2324.
11. Mukerji M, Choudhry S, Saleem Q. Molecular analysis of Friedreich's ataxia locus in the Indian population. Acta Neurol Scand 2000, 102:227-229.
12. Zühlke C, Bernard V, Gillessen KG. Investigation of recessive ataxia loci in patients with young age of onset. Neuropediatrics 2007, 38(4):207-209.
13. Dean G, Chamberlain S, Middleton L. Friedreich's ataxia in Kathikas-Arodhes, Cyprus (Letter). Lancet 1988, 331:587.
14. Silveira I, Miranda C, Guimaraes L. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 2002, 59:623-629.
15. Monticelli A, Giacchetti M, De Biase I. New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation. Hum Genet 2004, 114(5):458-463.
16. Cossée M, Schmitt M, Campuzano V. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 1997, 94(14):7452-7457.
17. Chattopadhyay B, Gupta S, Gangopadhyay PK. Molecular Analysis of GAA Repeats and Four Linked Bi-allelic Markers in and Around the Frataxin Gene in Patients and Normal Populations from India. Ann Hum Genet 2004, 68:189-195.
18. Mayo C, Hernandez C, Cantarero D. Distribución de ataxias hereditarias dominantes y ataxia de Friedreich en la población española. Med Clin (Barc) 2000, 115(4):121-125.