%0 Journal Article
%A Farschtschi, Said
%A Mautner, Victor-Felix
%A Pham, Mirko
%A Nguyen, Rosa
%A Kehrer-Sawatzki, Hildegard
%A Hutter, Sonja
%A Friedrich, Reinhard E
%A Schulz, Alexander
%A Morrison, Helen
%A Jones, David
%A Bendszus, Martin
%A Bäumer, Philipp
%T Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
%J Annals of neurology
%V 80
%N 4
%@ 0364-5134
%C Hoboken, NJ
%I Wiley-Blackwell
%M DKFZ-2017-01927
%P 625 - 628
%D 2016
%X Schwannomatosis is a genetic disorder characterized by the occurrence of multiple peripheral schwannomas. Segmental schwannomatosis is diagnosed when schwannomas are restricted to 1 extremity and is thought to be caused by genetic mosaicism. We studied 5 patients with segmental schwannomatosis through microstructural magnetic resonance neurography and mutation analysis of NF2, SMARCB1, and LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions were detected in clinically unaffected extremities. Two patients exhibited LZTR1 germline mutations. This appears contrary to a simple concept of genetic mosaicism and suggests more complex and heterogeneous mechanisms underlying the phenotype of segmental schwannomatosis than previously thought. Ann Neurol 2016;80:625-628.
%K LZTR1 protein, human (NLM Chemicals)
%K Transcription Factors (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:27472264
%R 10.1002/ana.24753
%U https://inrepo02.dkfz.de/record/125803