TY  - JOUR
AU  - Farschtschi, Said
AU  - Mautner, Victor-Felix
AU  - Pham, Mirko
AU  - Nguyen, Rosa
AU  - Kehrer-Sawatzki, Hildegard
AU  - Hutter, Sonja
AU  - Friedrich, Reinhard E
AU  - Schulz, Alexander
AU  - Morrison, Helen
AU  - Jones, David
AU  - Bendszus, Martin
AU  - Bäumer, Philipp
TI  - Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
JO  - Annals of neurology
VL  - 80
IS  - 4
SN  - 0364-5134
CY  - Hoboken, NJ
PB  - Wiley-Blackwell
M1  - DKFZ-2017-01927
SP  - 625 - 628
PY  - 2016
AB  - 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.
KW  - LZTR1 protein, human (NLM Chemicals)
KW  - Transcription Factors (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:27472264
DO  - DOI:10.1002/ana.24753
UR  - https://inrepo02.dkfz.de/record/125803
ER  -