CMT 1A and Guillain-Barr syndrome research news

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Muscle Nerve. 2007 Aug 30

Severe Guillain-Barr syndrome associated with chromosome 17p11.2-12

duplication.

M¨¹nch C, Epplen JT, Meins M, Meyer R, Weber JR, Meyer T.

Department of Neurology, Jewish Hospital Berlin, Heinz©\Galinski©\

Strasse 1, 13347 Berlin, Germany.

We report a patient with Guillain-Barr¨¦ 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.