Sygdomsmekanismer og terapeutiske perspektiver ved neurofibromatose 1

TY - JOUR

T1 - Sygdomsmekanismer og terapeutiske perspektiver ved neurofibromatose 1

AU - Kjærulff, Ole

AU - Wandall, Hans

PY - 2012/3/5

Y1 - 2012/3/5

N2 - Neurofibromatosis 1 (NF1, von Recklinghausen's disease) is a dominantly inherited multi-organ disease defined primarily by café au lait patches and neurofibromas. NF1 predisposes to cancer and is associated with cognitive dysfunction and learning defects. In recent years, considerable progress has been made in the understanding of NF1 pathogenesis, not least based on studies of genetically engineered animal models. We present an overview of the most important recent findings and the related current efforts to develop novel therapeutic strategies.

AB - Neurofibromatosis 1 (NF1, von Recklinghausen's disease) is a dominantly inherited multi-organ disease defined primarily by café au lait patches and neurofibromas. NF1 predisposes to cancer and is associated with cognitive dysfunction and learning defects. In recent years, considerable progress has been made in the understanding of NF1 pathogenesis, not least based on studies of genetically engineered animal models. We present an overview of the most important recent findings and the related current efforts to develop novel therapeutic strategies.

KW - Animals

KW - Cognition Disorders

KW - Disease Models, Animal

KW - Genes, Tumor Suppressor

KW - Humans

KW - Mutation

KW - Nerve Sheath Neoplasms

KW - Neurofibromatosis 1

KW - Neurofibromin 1

M3 - Tidsskriftartikel

C2 - 22395013

SN - 0041-5782

VL - 174

SP - 642

EP - 647

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 10

ER -