Literature DB >> 11523563

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

K Christodoulou1, F Deymeer, P Serdaroğlu, C Ozdemir, M Poda, D M Georgiou, P Ioannou, M Tsingis, E Zamba, L T Middleton.   

Abstract

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.

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Mesh：

Year:  2001        PMID： 11523563     DOI： 10.1007/s100480100112

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  11 in total

1.  Clinical heterogeneity of recessive ataxia in the Mexican population.

Authors:  A Rasmussen; M Gómez; E Alonso; S I Bidichandani
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-12       Impact factor: 10.154

2.  A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia.

Authors:  Eric C Deutsch; Avni B Santani; Susan L Perlman; Jennifer M Farmer; Catherine A Stolle; Michael F Marusich; David R Lynch
Journal:  Mol Genet Metab       Date:  2010-07-08       Impact factor: 4.797

3.  Triple therapy with darbepoetin alfa, idebenone, and riboflavin in Friedreich's ataxia: an open-label trial.

Authors:  Javier Arpa; Irene Sanz-Gallego; Francisco J Rodríguez-de-Rivera; Francisco J Domínguez-Melcón; Daniel Prefasi; Javier Oliva-Navarro; Mar Moreno-Yangüela; Samuel I Pascual-Pascual
Journal:  Cerebellum       Date:  2013-10       Impact factor: 3.847

4.  Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6.

Authors:  Pınar Bengi Boz; Filiz Koç; Sabriye Kocatürk Sel; Ali İrfan Güzel; Halil Kasap
Journal:  Noro Psikiyatr Ars       Date:  2016-06-01       Impact factor: 1.339

5.  Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia.

Authors:  Giuseppe Arcuria; Christian Marcotulli; Raffaele Amuso; Giuliano Dattilo; Claudio Galasso; Francesco Pierelli; Carlo Casali
Journal:  Neurol Sci       Date:  2020-01-28       Impact factor: 3.307

Review 6.  Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors:  Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal:  Antioxid Redox Signal       Date:  2010-09-01       Impact factor: 8.401

Review 7.  Spinocerebellar degenerations: an update.

Authors:  Susan L Perlman
Journal:  Curr Neurol Neurosci Rep       Date:  2002-07       Impact factor: 5.081

Review 8.  Transition of Thalassaemia and Friedreich ataxia from fatal to chronic diseases.

Authors:  Annita Kolnagou; Christina N Kontoghiorghe; George J Kontoghiorghes
Journal:  World J Methodol       Date:  2014-12-26

Review 9.  DNA triplex structures in neurodegenerative disorder, Friedreich's ataxia.

Authors:  Moganty R Rajeswari
Journal:  J Biosci       Date:  2012-07       Impact factor: 1.826

Review 10.  Autosomal recessive cerebellar ataxias.

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