Dr Elba Pascual-Goñi, researcher of the Neuromuscular Diseases Group of the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau has described a new subgroup of patients with chronic inflammatory demyelinating polyradiculoneuropathy based on clinical and immunological characteristics. Her results have just been published in the journal Brain, the oldest journal in neurology.

Inflammatory neuropathies are a heterogeneous group of diseases characterized by the presence of an autoimmune attack on the peripheral nerves. They are rare diseases and very little is known about their pathophysiology, so there are no specific biological markers and, therefore, they are diseases that can be difficult to diagnose or go unnoticed.

In some cases, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), the diagnosis is based exclusively on clinical and electrophysiological criteria, as there are no specific diagnostic biomarkers. CIDP is the most common chronic immune-mediated neuropathy, with a prevalence of around 2 per 100,000 people.

The Sant Pau neuromuscular diseases team works to find biomarkers in inflammatory neuropathies that help diagnose the disease and guide its treatment. This team has pioneered the description of antibodies against proteins of the Ranvier nodes, which are the small spaces between the myelin plates that we find throughout neurons and that are necessary for the nerve impulse to propagate correctly. “The description of these antibodies has represented a revolution in the field of immunomediated neuropathies, because it has allowed the identification of subgroups of patients that share common clinical characteristics and immunopathogenic mechanisms, highlighting the heterogeneity of this disease”, says Dr.. Luis Querol, principal investigator of the Autoimmune Neurology group of the Neuromuscular Diseases Unit in which this work was carried out.

In the recent study published in the journal Brain, researchers have described the clinical and immunological characteristics of CIDP with antibodies against the Caspr1 / CNTN1 complex, which is key to the proper functioning of the Ranvier node. “Investigating a set of specific antibodies has allowed us to identify a new subgroup of patients, who share clinical and immunological characteristics”, explains Dr Elba Pascual Goñi, neurologist and researcher at the Neuromuscular Diseases Unit of the Research Institute of the Hospital de la Santa Creu i Sant Pau – IIB Sant Pau de Barcelona and first author of the article. “Apart from identifying a unique population within the CIDP spectrum, the detection of these antibodies allows us to optimize the management of patients with this neuropathy”, concludes the researcher.

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