Artikel: Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi
2022 Band 122, Heft 2, Seite(n) 132–138
Abstract: Background: Mutations in the neurofilament light polypeptide gene (NEFL) are an uncommon cause of Charcot-Marie-Tooth disease (CMT). The aim of this study is to elucidate the clinical characteristics and genetic spectrum of NEFL-related neuropathy in a ... ...
| Abstract | Background: Mutations in the neurofilament light polypeptide gene (NEFL) are an uncommon cause of Charcot-Marie-Tooth disease (CMT). The aim of this study is to elucidate the clinical characteristics and genetic spectrum of NEFL-related neuropathy in a Taiwanese CMT cohort. Methods: Mutational analysis of the coding regions of NEFL was performed by Sanger sequencing or targeted resequencing. Twenty-one patients from nine CMT pedigrees, identified from a cohort of 508 unrelated CMT patients, were found to have a NEFL mutation. Genetic, clinical and electrophysiological features were analyzed. Results: Six NEFL mutations were identified, including two novel ones (p.P8S, p.N98Y). NEFL p.E396K was the most common mutation, accounting for 33.3% of the patients in our cohort. All patients manifested sensorimotor polyneuropathy with a mean age of disease onset of 13.5 ± 9.6 (1-40) years. Their motor nerve conduction velocities (MNCVs) of the ulnar nerve ranged from 22.1 to 48.7 m/s. Seventy percent of the patients could be classified as intermediate CMT with ulnar MNCVs between 25 and 45 m/s. Six of the 21 patients (28.6%) had additional features of central nervous system (CNS) involvement, including motor developmental delay, spasticity, cerebellar signs, neuropathic pain and scoliosis. Conclusion: NEFL mutations account for 1.8% (9/508) of the CMT patients in Taiwan. The present study delineates the clinical and genetic characteristics of NEFL-related neuropathy in Taiwan, and highlights that ulnar MNCV above 25 m/s and CNS involvement may serve as diagnostic clues for NEFL-related neuropathy. |
|---|---|
| Mesh-Begriff(e) | Humans ; Child, Preschool ; Child ; Adolescent ; Young Adult ; Adult ; Taiwan ; Charcot-Marie-Tooth Disease/genetics ; Mutation ; Neurofilament Proteins/genetics |
| Chemische Substanzen | neurofilament protein L ; Neurofilament Proteins |
| Sprache | Englisch |
| Erscheinungsdatum | 2022-08-26 |
| Erscheinungsland | Singapore |
| Dokumenttyp | Journal Article |
| ZDB-ID | 2096659-3 |
| ISSN | 1876-0821 ; 0929-6646 |
| ISSN (online) | 1876-0821 |
| ISSN | 0929-6646 |
| DOI | 10.1016/j.jfma.2022.08.008 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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