Research Topic

Fragile X Spectrum Disorders

About this Research Topic

Fragile X spectrum disorders include those with a full mutation (>200 CGG repeats) in FMR1 causing fragile X syndrome (FXS) and those with a premutation (55 to 200 CGG repeats) causing early ovarian insufficiency labelled fragile X-associated primary ovarian insufficiency (FXPOI), the neurodegenerative ...

Fragile X spectrum disorders include those with a full mutation (>200 CGG repeats) in FMR1 causing fragile X syndrome (FXS) and those with a premutation (55 to 200 CGG repeats) causing early ovarian insufficiency labelled fragile X-associated primary ovarian insufficiency (FXPOI), the neurodegenerative disorder fragile X-associated tremor ataxia syndrome (FXTAS) and fragile X-associated neuropsychiatric disorder (FXAND). FXS is the most common single gene cause of Autism Spectrum Disorder (ASD) and the most common inherited cause of intellectual disability. All individuals diagnosed with ASD or intellectual disability should have fragile X DNA testing. Sometimes the premutation can cause ASD and this is part of the neuropsychiatric disorders (FXAND) that can occur in childhood or adulthood.

This Research Topic focuses on all fragile X mutations and the broad spectrum of conditions and symptoms caused by the premutation and/or the full mutation. Correlations with molecular markers including FMRP deficits, mitochondrial problems, environmental modifiers, toxins and co-morbid conditions are of interest. New treatment studies, brain imaging, outcome measures and treatments in animal models are also of interest.

The goal of this Research Topic is to describe the varied conditions caused by fragile X mutations and explore a variety of environmental or biological factors that modify phenotypic expression, including risk and protective factors. The conditions concerning fragile X syndrome (FXS), FXPOI, FXTAS, FXAND, FXPAC and others can be included. New treatments will be highlighted in animal, cellular or human studies.

We welcome Original Research, Review articles and case history studies on the following topics:

• Breadth of the spectrum of involvement;
• Longitudinal studies including natural history studies;
• Neuropsychological studies;
• Treatment studies;
• Outcome measures of treatment studies;
• Risk and protective factors for FXTAS, FXPOI, or FXS severity;
• Neuroimaging studies;
• Molecular clinical measures;
• All premutation and full mutation conditions will be considered including FXS, FXTAS, FXPOI,FXAND and FXPAC;
• Animal models of FXTAS and FXS especially novel models/species.


Keywords: neuropsychological deficits, neuropsychiatric deficits, Fragile X syndrome, FXTAS, FXAND, FXPOI, FXPAC


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

28 May 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

28 May 2021 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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