[Anti-GD1b IgG positive case of overlapping Ficher's and Guillain-Barré syndromes].

We describe a patient who developed overlapping sensory ataxic form of Guillain-Barré syndrome (GBS) and Miller Fisher syndrome (MFS) following Campylobacter jejuni infection. Two cerebrospinal fluid examinations shown albuminocytologic dissociation associated with Campylobacter jejuni infection after tongue pierced. He had high titers of monospecific anti-GD1b IgG antibody.

Functional analysis of the Arg91Gln substitution in the factor VIII binding domain of von Willebrand factor demonstrates variable phenotypic expression.

An Arg91Gln substitution in the mature von Willebrand factor (vWF) has been associated with defective binding of vWF to factor VIII (FVIII). We studied four families with members initially classified as having type I von Willebrand disease (vWD) who were either homozygous or heterozygous for the Arg91Gln change. The first family was the original case described by Nishino et al.

Arg578Gln mutations in the von Willebrand factor gene in three unrelated cases of type IIB von Willebrand disease.

A recurrent heterozygous CGG-->CAG (Arg578Gln) mutation was detected in exon 28 of the von Willebrand factor gene in three additional unrelated families with inherited type IIB von Willebrand disease. This identical mutation showed a differential phenotypic expression in each family.