PW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations
نویسندگان
چکیده
منابع مشابه
PW02-032 - CNS manifestations and NLRP3/CIAS1 gene mutations
Results 15 patients (16%; 12 females) were identified to carry one of the two low-penetrance mutations in exon 3 of the NLRP3 gene (V198M: n= 2; Q703K: n =13). CAPS-associated systemic symptoms consisted of recurrent inflammation of the eyes, arthralgias, myalgias, urticarial rash, abdominal pain, and severe fatigue. CNS manifestation included optic nerve inflammation and/or atrophy, cranial ne...
متن کاملPW02-022 - Recurrent fever syndromes: multiple gene mutations
Methods Seventy-seven centres from 33 countries have been contributing to an international secured web-based registry for autoinflammatory diseases (EUROFEVER), hosted by the PRINTO website (Paediatric Rheumatology International Trial Organisation, http://www.printo.it). The registry collects anonymised demographic, clinical, laboratory and molecular genetic data on patients with autoinflammato...
متن کاملLoss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations
CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause central nervous system (CNS) abnormality in males, including stable subclinical signs and, less often, short-duration episodes characterized by motor difficulties and altered consciousness. However, some ...
متن کاملPW02-031 - Genetic and clinical manifestations of CAPS
Introduction Many variants in the NLRP3 gene are associated with a particular spectrum of autoinflammatory diseases or hereditary recurrent fevers (HRFs), including familial cold autoinflammatory syndrome (FCAS), Muckle Wells Syndrome (MWS), and chronic infantile neurologic, cutaneous and articular syndrome (CINCA), also known as neonatal onset multisystem inflammatory disease (NOMID). These ar...
متن کاملThe Proteus syndrome: CNS manifestations.
Proteus syndrome is a complex hamartomatous disorder characterized by multiple, diverse, somatic manifestations. We present a case in which severe, evolving CNS abnormalities were also exhibited. Imaging findings at presentation included hemimegalencephaly, subependymal calcified nodules, and periventricular cysts. Subsequently, dural sinus thrombosis developed. Eight previously reported patien...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a173