Olfactory deficits in Fragile X syndrome

Olfactory deficits in Fragile X syndrome | Authorea try { document.documentElement.classList.add('js'); } catch (e) { } var _gaq = _gaq || []; _gaq.push(['_setAccount', 'G-8VDV14Y67G']); _gaq.push(['_trackPageview']); (function() { var ga = document.createElement('script'); ga.type = 'text/javascript'; ga.async = true; ga.src = ('https:' == document.location.protocol ? 'https://ssl' : 'http://www') + '.google-analytics.com/ga.js'; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(ga, s); })(); Skip to main content Preprints Collections Wiley Open Research IET Open Research Ecological Society of Japan All Collections About About Authorea FAQs Contact Us Quick Search anywhere Search for preprint articles, keywords, etc. Search Search ADVANCED SEARCH SCROLL European Journal of Neuroscience This is a preprint and has not been peer reviewed. Data may be preliminary. 9 July 2025 V1 Latest version Share on Olfactory deficits in Fragile X syndrome Author : Praveen Kuruppath 0000-0003-3560-1861 [email protected] Authors Info & Affiliations https://doi.org/10.22541/au.175203571.15819157/v1 Published European Journal of Neuroscience Version of record Peer review timeline 243 views 116 downloads Contents Abstract Supplementary Material Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Fragile X Syndrome (FXS) is the most common inherited form of intellectual disability and a leading genetic contributor to autism spectrum disorders (ASDs). It is caused by the loss of Fragile X Mental Retardation Protein (FMRP), an mRNA-binding protein essential for synaptic function, plasticity, and neuronal development. While sensory processing abnormalities are a well-documented feature of FXS, the olfactory system remains an underexplored domain in both human studies and animal models. This review examines the structural and functional deficits in the olfactory system of FXS models, focusing on rodent and Drosophila studies that provide critical insights into the mechanisms underlying olfactory dysfunction. In Fmr1 knockout (KO) mice, structural abnormalities in the olfactory bulb, including aberrant dendritic morphology of mitral cells and increased granule cell spine density, lead to disruptions in excitatory/inhibitory (E/I) balance and impaired odor discrimination. Similarly, in Drosophila FXS models (dfmr1 mutants), synaptic connectivity deficits in the antennal lobe and mushroom body result in broadened odor tuning, reduced odor selectivity, and altered olfactory-guided behaviors. These deficits are linked to hyperexcitability and diminished GABAergic inhibition, mirroring findings in other sensory circuits affected by FXS. Although direct evidence of olfactory dysfunction in FXS patients is limited, ASD studies suggest that structural changes in the olfactory bulb and prefrontal cortex may contribute to sensory processing abnormalities in FXS as well. By combining findings from diverse model systems, this review highlights the olfactory system as a promising framework for understanding sensory processing deficits in FXS and their broader impact on neural function. Supplementary Material File (olfactory deficits in fragile x syndrome.docx) Download 3.38 MB Information & Authors Information Version history V1 Version 1 09 July 2025 Peer review timeline Published European Journal of Neuroscience Version of Record 20 Jan 2026 Published Copyright This work is licensed under a Non Exclusive No Reuse License. Collection European Journal of Neuroscience Keywords excitatory/inhibitory (e/i) balance fragile x syndrome odor discrimination olfactory bulb olfactory dysfunction Authors Affiliations Praveen Kuruppath 0000-0003-3560-1861 [email protected] University of Colorado Anschutz Medical Campus View all articles by this author Metrics & Citations Metrics Article Usage 243 views 116 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation Praveen Kuruppath. Olfactory deficits in Fragile X syndrome. Authorea . 09 July 2025. DOI: https://doi.org/10.22541/au.175203571.15819157/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . 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