科凯恩综合征2000.pdfVIP

HHS Public Access Author manuscript A Neurology . Author manuscript; available in PMC 2015 June 08. u t h Published in final edited form as: o r Neurology . 2000 November 28; 55(10): 1442–1449. M a n u s c Cockayne syndrome and xeroderma pigmentosum: r i p DNA repair disorders with overlaps and paradoxes t I. Rapin, MD, Y. Lindenbaum, MD, D.W. Dickson, MD, K.H. Kraemer, MD, and J.H. Robbins, MD Saul R. Korey Department of Neurology (Drs. Rapin, Lindenbaum, and Dickson), the Department of Pediatrics (Dr. Rapin), the Rose F. Kennedy Center for Research in Mental Retardation and A Human Development (Drs. Rapin and Dickson), and the Division of Neuropathology (Dr. u t h Dickson), Department of Pathology, Albert Einstein College of Medicine, Bronx, NY; the o r Department of Neurology (Dr. Lindenbaum), Ohio State University College of Medicine, M Columbus; the Department of Pathology (Dr. Dickson), Mayo Clinic Jacksonville, FL; the Basic a n Research Laboratory (Dr. Kraemer) and the Dermatology Branch (Dr. Robbins), National Cancer u s c Institute, NIH, Bethesda, MD r i p t Abstract Objectives—To review genetic variants of Cockayne syndrome (CS) and xeroderma pigmentosum (XP), autosomal recessive disorders of DNA repair that affect the nervous system, and to illustrate them by the first case of xeroderma pigmentosum–Cockayne syndrome (XP-CS) complex to undergo neuropathologic examination. A u t Methods—Published reports of clinical, pathologic, and molecular studies of CS, XP neurologic h o disease, and the XP-CS complex