Home > Articles > Published articles > Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy |
Date: | 2019 |
Abstract: | Objective Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. We hypothesized that mutations in CD59 might be found in a subset of sporadic CIDP patients. Methods 35 patients from two centers, fulfilling the EFNS/PNS diagnostic criteria for CIDP were included. CD59 coding region was amplified by PCR and Sanger sequenced. Results One rare variant was detected in a patient which resulted in a synonymous change and predicted to be neutral. Pathogenic variants were absent in our cohort. Interpretation Our pilot study suggests that mutations in CD59 are absent in adult-onset sporadic CIDP. |
Grants: | Ministerio de Economía y Competitividad PI15-00283 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017-SGR-1343 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017-SGR-1365 |
Note: | Altres ajuts: We thank the staff of the Department of Psychiatry of Hospital Universitari Santa Maria, Lleida; Núria Vidal D.Clin.Psy, (funded by a Spanish FIS-MSC Grant [PI11/01956]), from Hospital FREMAP Barcelona, Catalonia, Spain, who performed cognitive assessments;E. Vieta thanks the support of the Spanish Ministry of Economy and Competitiveness (PI15/00283) integrated into the Plan Nacional de I + D+I and cofinanced by ISCIII-Subdirección General de Evaluación y el Fondo Europeo de Desarrollo Regional (FEDER); CIBERSAM; M.J. Portella thanks the suport of the Catalan Department of Health (SLT006_17_177).We also thank the patients and healthy controls who participated in the study for their kind cooperation. We also thank to Rebecca Oglesby MD, who kindly helped us with the language editing. |
Rights: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
Language: | Anglès |
Document: | Article ; recerca ; Versió publicada |
Subject: | CD59 Antigens ; Female ; Humans ; Male ; Middle Aged ; Mutation ; Pilot Projects ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating |
6 p, 599.3 KB |