Literature DB >> 2764036

"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus.

B J Keats1, L J Ward, J Shaw, A Wickremasinghe, S Chamberlain.   

Abstract

"Acadian ataxia" is a form of Friedreich ataxia found in individuals of Acadian ancestry. It was described by Barbeau (in Sobue I (ed): Spinocerebellar Degeneration; Tokyo: Univ. Tokyo Press, pp 121-142, 1980) as having a slower course of degeneration and less severe secondary symptoms than "classical" Friedreich ataxia. He suggested that these 2 forms of the disease may be distinct. The mutation causing "classical" Friedreich ataxia has recently been mapped to chromosome 9 through genetic linkage studies, and here we show that the locus causing Friedreich ataxia in Acadian families from southwestern Louisiana is tightly linked to the same DNA marker, D9S15. Thus, these 2 disorders, which may be differentiated clinically, are most probably due to mutation(s) at the same locus on chromosome 9.

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Year:  1989        PMID: 2764036     DOI: 10.1002/ajmg.1320330224

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

Authors:  G Sirugo; B Keats; R Fujita; F Duclos; K Purohit; M Koenig; J L Mandel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

Review 2.  Friedreich ataxia: an overview.

Authors:  M B Delatycki; R Williamson; S M Forrest
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 3.  History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration.

Authors:  José Berciano; José Gazulla; Jon Infante
Journal:  Cerebellum       Date:  2021-11-03       Impact factor: 3.648

4.  A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Authors:  P Smeyers; E Monrós; J Vílchez; J Lopez-Arlandis; F Prieto; F Palau
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

Review 5.  Autosomal recessive cerebellar ataxias.

Authors:  Francesc Palau; Carmen Espinós
Journal:  Orphanet J Rare Dis       Date:  2006-11-17       Impact factor: 4.123

6.  Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.

Authors:  S Chamberlain; M Farrall; J Shaw; D Wilkes; J Carvajal; R Hillerman; K Doudney; A E Harding; R Williamson; G Sirugo
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

  6 in total

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