title: NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
abstract: Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with demyelinating neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way.
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea.
authors.forename: Ji Soo
authors.initials: JS
authors.lastname: Shin
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea.
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea.
authors.forename: Jiyoung
authors.initials: J
authors.lastname: Yun
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea.
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Hwang
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: Sung Hee
authors.initials: SH
authors.lastname: Kang
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: En Min
authors.initials: EM
authors.lastname: Cho
authors.affiliation: Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
authors.forename: Seung-Min
authors.initials: SM
authors.lastname: Kim
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, Mokdong Hospital, 911-1 Mokdong Yangcheon-ku, Seoul, 158-710, South Korea. bochoi@ewha.ac.kr.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi