Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations.
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ABSTRACT:
SUBMITTER: Schuh E
PROVIDER: S-EPMC4436598 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Publications
Expanding spectrum of neurologic manifestations in patients with NLRP3 low-penetrance mutations.
Schuh Elisabeth E Lohse Peter P Ertl-Wagner Birgit B Witt Matthias M Krumbholz Markus M Frankenberger Marion M Gerdes Lisa-Ann LA Hohlfeld Reinhard R Kümpfel Tania T
Neurology(R) neuroimmunology & neuroinflammation 20150514 4
<h4>Objective</h4>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.<h4>Methods</h4>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 neuroradiol ...[more]
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