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Neurological manifestations in autoinflammatory syndromes: a series of 131 patients from our neuroimmunology departement


Cryopyrin-associated periodic syndrome (CAPS), familial mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndromes (TRAPS) are rare systemic, monogenetic inherited autoinflammatory diseases. The clinical significance of low penetrance mutations in TRAPS and CAPS as well as heterozygosity in FMF is still under debate. The frequency and clinical pattern of peripheral and central nervous system (CNS) manifestation in those patients remain unclear.


To describe the neurological phenotype of patients with a low penetrance variant in the TNFRSF1A gene, the NLRP3 gene, or with a heterozygous mutation in the MEFV gene seen in our neuroimmunology department between 2006 and 2015.


131 patients (f=88, m=43; mean age 41 ± 10 years) have been identified in our outpatient clinic: 65 with a low penetrance mutation in the TNFRSF1A gene, 23 with a low penetrance variants in the NLRP3 gene and 43 with a heterozygous mutation in the MEFV gene. 90 patients had an additional diagnosis of multiple sclerosis (MS). Headache and chronic pain syndromes were observed among TRAPS, CAPS and FMF patients. Inflammation predominately affected the eye and optic nerve. Otherwise the neurological phenotype was heterogeneous among groups and included mostly dysesthesia in TRAPS patients, cranial nerve (CN) affection in CAPS patients and CNS vasculitis in the FMF non-MS cohort. Other systemic symptoms included abdominal pain, arthralgias and myalgias, urticarial rash and severe fatigue. So far none of the patients had developed AA amyloidosis.


In this large mono-centric cohort of patients with autoinflammatory syndromes concomitant MS was frequently observed indicating that mutations in the TNFRSF1A, NLRP3 and MEFV gene may contribute to MS susceptibility. Besides MS a variety of neurological manifestations can occur and TRAPS, CAPS and FMF should be included as differential diagnosis in patients with unusual CNS inflammation including CN affection, severe headache syndromes and additional systemic symptoms such as abdominal pain, arthralgia and urticarial rash suggestive for an autoinflammatory disease.

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This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

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Schuh, E., Lohse, P., Havla, J. et al. Neurological manifestations in autoinflammatory syndromes: a series of 131 patients from our neuroimmunology departement. Pediatr Rheumatol 13 (Suppl 1), P150 (2015).

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