{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T21:07:50Z","timestamp":1788815270491,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:00:00Z","timestamp":1773014400000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Eur J of Neuroscience"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Parkinson's disease (PD) is a neurodegenerative syndrome with diverse biological drivers, where gait and balance dysfunction remain among the most disabling and least understood symptoms. Bassoon (\n                    <jats:italic>BSN<\/jats:italic>\n                    ), a presynaptic active\u2010zone organizer, has been implicated in various parkinsonian disorders. Here, we report the impact of\n                    <jats:italic>BSN<\/jats:italic>\n                    mutations on motor symptoms, especially gait\u2010related symptoms, in PD patients. Our study included 110 patients carrying\n                    <jats:italic>BSN<\/jats:italic>\n                    mutations in a cohort of 668 South Asian early\u2010onset PD (age of onset &lt;\u200950\u2009years). Clinical motor features were compared between variant carriers and noncarriers. Computational tools (CADD, PolyPhen\u20102, I\u2010Mutant2.0 and ConSurf) predicted deleteriousness of individual mutations, whereas GeneMANIA and STRING speculated Bassoon's functional interactions. Subjects carrying\n                    <jats:italic>BSN<\/jats:italic>\n                    variants exhibited significantly increased burden of motor\u2010related symptoms (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.036). Freezing of gait (FOG) and shuffling gait (SG) were significantly more prevalent in\n                    <jats:italic>BSN<\/jats:italic>\n                    mutation carriers (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.03). Presence of\n                    <jats:italic>BSN<\/jats:italic>\n                    mutation correlated with an increased disease stage, an effect driven by FOG and SG (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.012). Rare\n                    <jats:italic>BSN<\/jats:italic>\n                    mutations (MAF &lt;\u20090.1%) clustered in the Bassoon C\u2010terminal region (aa 3500\u20133800), at a threefold frequency than expected (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.01), implying a hotspot. In silico analysis identified seven likely pathogenic variants (P171L, A852T, P988A, R1015H, R2561H, R3400W and L3561P). Predictive analyses implicated\n                    <jats:italic>BSN<\/jats:italic>\n                    in axonal transport, presynaptic proteostasis and neurotransmitter release in dopaminergic\/cholinergic neurons. Our findings put forth\n                    <jats:italic>BSN<\/jats:italic>\n                    mutations as a potential genetic risk factor for PD\u2010related motor and gait dysfunction, warranting further research in this respect.\n                  <\/jats:p>","DOI":"10.1111\/ejn.70458","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T02:41:00Z","timestamp":1773110460000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Association of Bassoon (\n                    <i>BSN<\/i>\n                    ) Gene Mutations With Gait and Motor Impairments in Parkinson's Disease"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4610-947X","authenticated-orcid":false,"given":"Prashanth\u00a0Lingappa","family":"Kukkle","sequence":"first","affiliation":[{"name":"Parkinson's Disease and Movement Disorders Clinic  Bengaluru 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