Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort
Joint Authors
Wang, Zhaoxia
Yuan, Yun
Wu, Rui
Lv, He
Zhang, Wei
Zuo, Yuehuan
Liu, Jing
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-08-01
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy.
Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study.
The clinical picture included a great variability of phenotype with mean onset age of 22.2±14.5 years (1–55 years).
Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%).
We observed no significant correlation between nerve fiber density and disease duration.
There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and g-ratio.
Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease.
Focally thickened myelin is another common morphological feature of demyelination.
American Psychological Association (APA)
Wu, Rui& Lv, He& Zhang, Wei& Wang, Zhaoxia& Zuo, Yuehuan& Liu, Jing…[et al.]. 2017. Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. BioMed Research International،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1138105
Modern Language Association (MLA)
Wu, Rui…[et al.]. Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. BioMed Research International No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1138105
American Medical Association (AMA)
Wu, Rui& Lv, He& Zhang, Wei& Wang, Zhaoxia& Zuo, Yuehuan& Liu, Jing…[et al.]. Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1138105
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1138105