2026-05-17T01:16:09Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/263272025-12-18T12:56:29Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19617

00925njm 22002777a 4500 dc Anzibar Fialho, Maximiliano author Martínez Barreiro, Mariana author Vázquez Alberdi, Lucia author Damián, Juan Pablo author Di Tomaso, María Vittoria author Baranger, Jérôme author Tanter, Mickael author Calero, Miguel author Negreira, Carlos author Rubido, Nicolás author Kun, Alejandra author Brum, Javier author 2024-12-03 The Charcot-Marie-Tooth-1E (CMT1E) disease is typically described as a peripheral neuropathy in humans, causing decreased nerve conduction, spastic paralysis, and tremor. The Trembler-J (TrJ) mice serve as a high fidelity model of this disease. Here, we use functional ultrasound (fUS) and functional connectivity (FC) to analyze TrJ mice's brain activity during sensory stimulation and resting state experiments against wild type (WT) mice - the healthy counterpart. fUS is an imaging technique that measures cerebral blood volume (CBV) temporal changes. We study these changes in the primary somatosensory cortex barrel field (S1BF) of both mice populations during periodic vibrissae stimulation, measuring the number of pixels that correlate to the stimulation (i.e., the size of the activation area), the average correlation of these pixels (i.e., the response strength), and the CBV's rate of change for each stimulation (i.e., the hemodynamic response). Then, we construct a FC matrix for each genotype and experiment by correlating the CBV signals from the eight cortical regions defined by the Paxinos and Franklin atlas. Our results show that TrJ mice have significantly diminished neurovascular responses and altered brain connectivity with respect to WT mice, pointing to central nervous system effects that could shift our understanding of the CMT1E disease. Anzibar Fialho M, Martínez Barreiro M, Vázquez Alberdi L, Damián JP, Di Tomaso MV, Baranger J, Tanter M, Calero M, Negreira C, Rubido N, Kun A, Brum J. Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease. Sci Rep. 2024 Dec 3;14(1):30073. 10.1038/s41598-024-80022-z 2045-2322 Scientific reports 39627364 https://hdl.handle.net/20.500.12105/26327 Functional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease