Trinucleotide Repeats in 202 Families With Ataxia | Zendy

Isabel Silveira | Zendy; Carlos J. Miranda | Zendy; Laura Guimarães | Zendy; M.-C. Moreira | Zendy; Isabel Alonso | Zendy; Pedro Mendonça | Zendy; Anabela Ferro | Zendy; Jorge PintoBasto | Zendy; João Coelho | Zendy; Fátima Ferreirinha | Zendy; John T. Poirier | Zendy; E. Parreira | Zendy; José Vale | Zendy; Cristina Januário | Zendy; Clara Barbot | Zendy; Assunção Tuna | Zendy; José Barros | Zendy; Reiji Koide | Zendy; Shoji Tsuji | Zendy; Susan E. Holmes | Zendy; Russell L. Margolis | Zendy; Laura Bannach Jardim | Zendy; Massimo Pandolfo | Zendy; Paula Coutinho | Zendy; Jorge Sequeiros | Zendy

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Trinucleotide Repeats in 202 Families With Ataxia

Author(s) -

Isabel Silveira,

Carlos J. Miranda,

Laura Guimarães,

M.-C. Moreira,

Isabel Alonso,

Pedro Mendonça,

Anabela Ferro,

Jorge PintoBasto,

João Coelho,

Fátima Ferreirinha,

John T. Poirier,

E. Parreira,

José Vale,

Cristina Januário,

Clara Barbot,

Assunção Tuna,

José Barros,

Reiji Koide,

Shoji Tsuji,

Susan E. Holmes,

Russell L. Margolis,

Laura Bannach Jardim,

Massimo Pandolfo,

Paula Coutinho,

Jorge Sequeiros

Publication year - 2002

Publication title -

archives of neurology

Language(s) - English

Resource type - Journals

eISSN - 1538-3687

pISSN - 0003-9942

DOI - 10.1001/archneur.59.4.623

Subject(s) - trinucleotide repeat expansion , spinocerebellar ataxia , genetics , ataxia , allele , biology , frataxin , genotype , gene , neuroscience , iron binding proteins

Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood.

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