Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication.
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.
Münch
Christoph
C
Department of Neurology, Jewish Hospital Berlin, Heinz-Galinski-Strasse 1, 13347 Berlin, Germany. christoph.muench@uni-ulm.de
Epplen
Jörg T
JT
Meins
Moritz
M
Meyer
Robert
R
Weber
Jörg R
JR
Meyer
Thomas
T
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology