Oral posters presentation

Anti-FGFR3 antibody etiopes are functional sites and correlate with the neuropathy pattern

Yannick THOLANCE (Saint-Etienne)

Autoantibodies against Fibroblast Growth Factor Receptor 3 (FGFR3) were recently identified in 15% of patients with sensory neuropathy (SN). In order to better understand their role, we aimed to confirm their intracellular target and to identify their epitope(s) more precisely.

Holistic characterization of the autoantigen repertoire in chronic inflammatory demyelinating polyneuropathy

Christian MORITZ (Saint-Etienne)

Several neuropathies, such as Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), are associated with autoantibodies towards nerve components. Apart from single autoantigens, another recent idea aims at identifying and understanding the entire repertoire of autoantigens. We hypothesize that this holistic approach will lead to comprehensive insights into the pathobiology of CIDP, which may enable novel diagnostical options.

Mutations in LRSAM1 causing a mild sensory-predominant neuropathy

Nushan GUNAWARDANA (Cambridge)

CMT2P, a subtype of axonal CMT, is caused by mutations in LRSAM1. The clinical phenotype is usually late-onset and predominantly sensory in nature. Several kindreds with either autosomal dominant (AD) or autosomal recessive (AR) patterns of inheritance have been described. We describe two cases with heterozygous mutations in LRSAM1, one of which is novel.

Retrospective cohort observational study of venous and arterial thrombotic rates in poems patients: results from the uk-based poems registry

Stephen KEDDIE, Cambridge

Abstract soon available

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