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Schuh, E.* ; Lohse, P.* ; Ertl-Wagner, B.* ; Witt, M.* ; Krumbholz, M.* ; Frankenberger, M. ; Gerdes, L.A.* ; Hohlfeld, R.* ; Kümpfel, T.*

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

Neurol. Neuroimmunol. Neuroinflammation 2:e109 (2015)
Verlagsversion DOI PMC
Free by publisher
Creative Commons Lizenzvertrag
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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 concomitant diagnosis of multiple sclerosis (MS). In 3 patients, we identified additional family members with the respective mutation as well as the diagnosis of MS. Severe recurrent cranial nerve (CN) affection was the hallmark feature in 7 of the 8 (88%) non-MS mutation carriers. Brain MRI showed abnormalities in all but 2 patients (88%) and detected CN inflammation in 4 patients. Interleukin-6 was elevated in the CSF of 2 patients in the non-MS cohort during acute CAPS episodes with severe CNS inflammation. 5 of 9 treated patients (56%) responded to anti-interleukin-1 therapy. CONCLUSION: CAPS constitute rare but treatable and commonly misdiagnosed autoinflammatory syndromes. Our data expand the spectrum of CAPS-associated neurologic manifestations. They also broaden our concept of autoimmunity and autoinflammation by linking CAPS and MS.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
e-ISSN 2332-7812
Zeitschrift Neurology Neuroimmunology & Neuroinflammation
Quellenangaben Band: 2, Heft: 4, Seiten: , Artikelnummer: e109 Supplement: ,
Verlag Lippincott Williams & Wilkins
Verlagsort Philadelphia, Pa.
Begutachtungsstatus