Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations.

ABSTRACT:

Objective

To evaluate the frequency of the cryoporin/NLRP3 low-penetrance mutations V198M and Q703K in patients who reported at least 2 symptoms compatible with cryopyrin-associated periodic syndromes (CAPS) and to characterize the phenotype in mutation-positive patients.

Methods

The frequency of the V198M and Q703K mutations was investigated in a selected cohort of 108 patients from our neuroimmunology department. We describe the clinical, neurologic, immunologic, and neuroradiologic features of the mutation carriers.

Results

Seventeen patients (16%) tested positive for either of the 2 mutations (V198M: n = 2; Q703K: n = 15). Eleven patients (65%) had severe headache syndromes. Six of these 11 patients were diagnosed with migraine. Nine patients (53%) had a concomita

SUBMITTER: Schuh E 

PROVIDER: S-EPMC4436598 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature