학술논문
Severe Guillain–Barré syndrome associated with chromosome 17p11.2-12 duplication
Document Type
Academic Journal
Author
Source
Muscle & Nerve. Feb 01, 2008 37(2):256-258
Subject
Language
English
ISSN
0148-639X
Abstract
ABSTRACT:: We report a patient with Guillain–Barré syndrome (GBS), characterized by severe tetraparesis, bulbar syndrome, and ophthalmoparesis. The nadir was reached within 1 day, followed by respiratory insufficiency requiring mechanical ventilation. Molecular analysis revealed a duplication at chromosome 17p11.2-12, which is a known genetic cause of Charcot–Marie–Tooth disease type 1A (CMT1A). We suggest that this genotype may comprise a previously unrecognized genetic risk factor for GBS.