オマタ　タク   OMATA Taku   小俣　卓    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
掲載誌名	正式名：Genetics in medicine : official journal of the American College of Medical Genetics 略　 称：Genet Med ISSNコード：15300366/10983600
掲載区分	国外
巻・号・頁	18(5),pp.483-493
国際共著	国際共著
著者・共著者	Brian T Wilson†*, Zornitza Stark, Ruth E Sutton, Sumita Danda, Alka V Ekbote, Solaf M Elsayed, Louise Gibson, Judith A Goodship, Andrew P Jackson, Wee Teik Keng, Mary D King, Emma McCann, Toshino Motojima, Jennifer E Murray, Taku Omata, Daniela Pilz, Kate Pope, Katsuo Sugita, Susan M White, Ian J Wilson
発行年月	2016/05
概要	PURPOSE:Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely been restricted to case reports and small series, and no guidelines for care have been established.METHODS:One hundred two study participants were identified through a network of collaborating clinicians and the Amy and Friends CS support groups. Families with a diagnosis of CS could also self-recruit. Comprehensive clinical information for analysis was obtained directly from families and their clinicians.RESULTS AND CONCLUSION:We present the most complete evaluation of Cockayne syndrome to date, including detailed information on the prevalence and onset of clinical features, achievement of neurodevelopmental milestones, and patient management. We confirm that the most valuable prognostic factor in CS is the presence of early cataracts. Using this evidence, we have created simple guidelines for the care of individuals with CS. We aim to assist clinicians in the recognition, diagnosis, and management of this condition and to enable families to understand what problems they may encounter as CS progresses.Genet Med 18 5, 483-493.
DOI	10.1038/gim.2015.110
PMID	26204423