{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T15:37:52Z","timestamp":1760369872038},"reference-count":29,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\nBackground: <\/jats:title>\nCharcot-Marie-Tooth disease (CMT) is among the most common group of inherited neuromuscular diseases. SACS<\/jats:italic> mutations were demonstrated to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). However, there have been few case reports regarding to NEFH<\/jats:italic> and SACS<\/jats:italic> gene mutation to CMT in Vietnamese patients, and the diagnosis of CMT<\/jats:italic> and ARSACS<\/jats:italic> in the clinical setting still overlapped.<\/jats:p>\n<\/jats:sec>\n\nCase Description: <\/jats:title>\nWe report two patients presenting with sensorimotor neuropathy without cerebellar ataxia, spasticity and other neurological features, being diagnosed with intermediate form CMT by electrophysiological and clinical examination and neuroimaging. By whole-exome sequencing panel of two affected members, and PCR Sanger on NEFH<\/jats:italic> and SACS<\/jats:italic> genes to confirm the presence of selected variants on their parents, we identified a novel missense variant NEFH c.1925C>T<\/jats:italic> (inherited from the mother) in an autosomal dominant heterozygous state, and two recessive SACS<\/jats:italic> variants (SACS c.13174C>T<\/jats:italic>, causing missense variant, and SACS c.11343del<\/jats:italic>, causing frameshift variant) (inherited one from the mother and another from the father) in these two patients. Clinical and electrophysiological findings on these patients did not match classical ARSACS. To the best of our knowledge, this is the first case report of two affected siblings diagnosed with CMT carrying both a novel NEFH<\/jats:italic> variant and biallelic SACS<\/jats:italic> variants.<\/jats:p>\n<\/jats:sec>\n\nConclusion: <\/jats:title>\nWe concluded that this novel NEFH<\/jats:italic> variant is likely benign, and biallelic SACS<\/jats:italic> mutation (c.13174C>T<\/jats:italic> and c.11343del<\/jats:italic>) is likely pathogenic for intermediate form CMT. This study is also expected to emphasize the current knowledge of intermediate form CMT, ARSACS, and the phenotypic spectrum of NEFH-<\/jats:italic>related and SACS<\/jats:italic>-related disorders. We expect to give a new understanding of CMT; however, further research should be conducted to provide a more thorough knowledge of the pathogenesis of CMT in the future.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_803_2022","type":"journal-article","created":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T06:30:54Z","timestamp":1669357854000},"page":"553","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam"],"prefix":"10.25259","volume":"13","author":[{"given":"Anh Tuan","family":"Truong","sequence":"first","affiliation":[{"name":"Department of Clinical Medicine, Nam Dinh University of Nursing, Nam Dinh, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anh Thi Lan","family":"Luong","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Hanoi Medical University, Hanoi, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linh Hai","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hanoi Medical University, Hanoi, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huong Van","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hanoi Medical University, Hanoi, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diep Ngoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Theoretical and Applied Research (ITAR), School of Medicine and Pharmacy, Duy Tan University, Da Nang, Vietnam."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc Thi Minh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics, Hanoi Medical University, Hanoi, 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