{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T07:32:16Z","timestamp":1790062336156,"version":"4.0.1"},"reference-count":79,"publisher":"Oxford University Press (OUP)","issue":"4","funder":[{"DOI":"10.13039\/100014804","name":"Neurofibromatosis Therapeutic Acceleration Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012304","name":"Johns Hopkins University School of Medicine","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012304","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["#HD090209 K23"],"award-info":[{"award-number":["#HD090209 K23"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["#HD108684 R01"],"award-info":[{"award-number":["#HD108684 R01"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Noonan syndrome and neurofibromatosis type 1 are genetic conditions linked to pathogenic variants in genes of the Ras\u2013mitogen-activated protein kinase signalling pathway. Both conditions hyper-activate signalling of the Ras\u2013mitogen-activated protein kinase pathway and exhibit a high prevalence of neuropsychiatric disorders. Further, animal models of Noonan syndrome and neurofibromatosis type 1 and human imaging studies show white matter abnormalities in both conditions. While these findings suggest Ras\u2013mitogen-activated protein kinas pathway hyper-activation effects on white matter, it is unknown whether these effects are syndrome-specific or pathway-specific. To characterize the effect of Noonan syndrome and neurofibromatosis type 1 on human white matter\u2019s microstructural integrity and discern potential syndrome-specific influences on microstructural integrity of individual tracts, we collected diffusion-weighted imaging data from children with Noonan syndrome (n = 24), neurofibromatosis type 1 (n = 28) and age- and sex-matched controls (n = 31). We contrasted the clinical groups (Noonan syndrome or neurofibromatosis type 1) and controls using voxel-wise, tract-based and along-tract analyses. Outcomes included voxel-wise, tract-based and along-tract fractional anisotropy, axial diffusivity, radial diffusivity and mean diffusivity. Noonan syndrome and neurofibromatosis type 1 showed similar patterns of reduced fractional anisotropy and increased axial diffusivity, radial diffusivity, and mean diffusivity on white matter relative to controls and different spatial patterns. Noonan syndrome presented a more extensive spatial effect than neurofibromatosis type 1 on white matter integrity as measured by fractional anisotropy. Tract-based analysis also demonstrated differences in effect magnitude with overall lower fractional anisotropy in Noonan syndrome compared to neurofibromatosis type 1 (d = 0.4). At the tract level, Noonan syndrome\u2013specific effects on fractional anisotropy were detected in association tracts (superior longitudinal, uncinate and arcuate fasciculi; P &amp;lt; 0.012), and neurofibromatosis type 1\u2013specific effects were detected in the corpus callosum (P &amp;lt; 0.037) compared to controls. Results from along-tract analyses aligned with results from tract-based analyses and indicated that effects are pervasive along the affected tracts. In conclusion, we find that pathogenic variants in the Ras\u2013mitogen-activated protein kinase pathway are associated with white matter abnormalities as measured by diffusion in the developing brain. Overall, Noonan syndrome and neurofibromatosis type 1 show common effects on fractional anisotropy and diffusion scalars, as well as specific unique effects, namely, on temporoparietal\u2013frontal tracts (intra-hemispheric) in Noonan syndrome and on the corpus callosum (inter-hemispheric) in neurofibromatosis type 1. The observed specific effects not only confirm prior observations from independent cohorts of Noonan syndrome and neurofibromatosis type 1 but also inform on syndrome-specific susceptibility of individual tracts. Thus, these findings suggest potential targets for precise, brain-focused outcome measures for existing medications, such as MEK inhibitors, that act on the Ras\u2013mitogen-activated protein kinase pathway.<\/jats:p>","DOI":"10.1093\/braincomms\/fcae274","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T00:55:52Z","timestamp":1723510552000},"source":"Crossref","is-referenced-by-count":18,"title":["Impact of pathogenic variants of the Ras\u2013mitogen-activated protein kinase pathway on major white matter tracts in the human brain"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5455-6210","authenticated-orcid":false,"given":"Monica","family":"Siqueiros-Sanchez","sequence":"first","affiliation":[{"name":"Brain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine , Palo Alto, CA 94306 , USA"},{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Stanford, CA 94305 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erpeng","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Radiology, Stanford University , Stanford, CA 94305-5105 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe A","family":"McGhee","sequence":"additional","affiliation":[{"name":"Brain Imaging, Development and Genetic (BRIDGE) Lab, Stanford University School of Medicine , Palo Alto, CA 94306 , USA"},{"name":"Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine , Stanford, CA 94305 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"McNab","sequence":"additional","affiliation":[{"name":"Department of Radiology, Stanford University , Stanford, CA 94305-5105 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mira M","family":"Raman","sequence":"additional","affiliation":[{"name":"Brain 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