NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
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.
Shin
Ji Soo
JS
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.
Chung
Ki Wha
KW
Department of Biological Science, Kongju National University, Gongju, South Korea.
Cho
Sun Young
SY
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.
Yun
Jiyoung
J
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.
Hwang
Su Jin
SJ
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.
Kang
Sung Hee
SH
Department of Biological Science, Kongju National University, Gongju, South Korea.
Cho
En Min
EM
Department of Biological Science, Kongju National University, Gongju, South Korea.
Kim
Seung-Min
SM
Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
Choi
Byung-Ok
BO
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.