{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T20:24:36Z","timestamp":1792009476111,"version":"4.4.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,5,5]],"date-time":"2024-05-05T00:00:00Z","timestamp":1714867200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2022JJ30910"],"award-info":[{"award-number":["2022JJ30910"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>Mutations in ganglioside\u2010induced differentiation\u2010associated protein 1 (<jats:italic>GDAP1<\/jats:italic>) cause axonal or demyelinating Charcot\u2013Marie\u2013Tooth disease (CMT) with autosomal dominant or recessive inheritance. In this study, we aim to report the genotypic and phenotypic features of <jats:italic>GDAP1<\/jats:italic>\u2010related CMT in a Chinese cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, neurophysiological, genetic data, and available muscle\/brain imaging information of 28 CMT patients with <jats:italic>GDAP1<\/jats:italic> variants were retrospectively collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 16 <jats:italic>GDAP1<\/jats:italic> pathogenic variants, among which two novel variants c.980dup(p.L328FfsX25) and c.480+4T&gt;G were first reported. Most patients (16\/28) presented with AR or AD CMT2K phenotype. Clinical characteristics in our cohort demonstrated that the AR patients presented earlier onset, more severe phenotype compared with the AD patients. Considerable intra\u2010familial phenotypic variability was observed among three AD families. Muscle atrophy and fatty infiltration in the lower extremity were detected by Muscle magnetic resonance imaging (MRI) scans in four patients. MRI showed two AR patients showed more severe muscle involvement of the posterior compartment than those of the anterolateral compartment in the calf. One patient carrying Q38*\/H256R variants accompanied with mild periventricular leukoaraiosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this study, we conducted an analysis of clinical features of the <jats:italic>GDAP1<\/jats:italic>\u2010related CMT patients, expanded the mutation spectrum in <jats:italic>GDAP1<\/jats:italic> by reporting two novel variants, and presented the prevalent occurrence of the H256R mutation in China. The screening of <jats:italic>GDAP1<\/jats:italic> should be particularly emphasized in Chinese patients with CMT2, given the incomplete penetrance and pathogenic inheritance patterns involving dominant and recessive modes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12628","type":"journal-article","created":{"date-parts":[[2024,5,6]],"date-time":"2024-05-06T02:14:06Z","timestamp":1714961646000},"page":"232-242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genetic and clinical profile of 15 Chinese families with <i>GDAP1<\/i>\u2010related <scp>Charcot\u2013Marie\u2013Tooth<\/scp> disease and identification of <scp>H256R<\/scp> as a frequent mutation"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-4718-1361","authenticated-orcid":false,"given":"Zhongzheng","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South 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