Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Key Points
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset condition in carriers of premutations in the
FMR1
gene; only 40–75% of males and 16–20% of females with premutations develop FXTAS
Premutation carriers can experience neurodevelopmental and reproductive problems earlier in life, as well as other symptoms that...
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Full title
Fragile X-associated tremor/ataxia syndrome — features, mechanisms and management
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TN_cdi_proquest_miscellaneous_1800701498
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1800701498
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ISSN
1759-4758,1759-4766
E-ISSN
1759-4766
DOI
10.1038/nrneurol.2016.82
