The FRAXopathies: Definition, overview, and update

Giovanni Neri, Filomena Pirozzi, Elisabetta Tabolacci

Research output: Contribution to journalArticle

Abstract

The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related tot he X chromosome folate-sensitive site FRAXA. Threfore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present reviwe will outline the main clinical and molecular features of these disorders, with special emphasis on the pathogenic mechanisms that lead to distinct phenotypes, starting from related mutations. The understanding of these mechanisms is already generating promising therapeutic approaches
Original languageEnglish
Pages (from-to)1803-1816
Number of pages14
JournalAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume2011
Publication statusPublished - 2011

Keywords

  • FXTAS

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