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- Title
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
- Authors
Farschtschi, Said; Mautner, Victor‐Felix; Pham, Mirko; Nguyen, Rosa; Kehrer‐Sawatzki, Hildegard; Hutter, Sonja; Friedrich, Reinhard E.; Schulz, Alexander; Morrison, Helen; Jones, David T. W.; Bendszus, Martin; Bäumer, Philipp; Mautner, Victor-Felix; Kehrer-Sawatzki, Hildegard; Bäumer, Philipp
- Abstract
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.
- Publication
Annals of Neurology, 2016, Vol 80, Issue 4, p625
- ISSN
0364-5134
- Publication type
journal article
- DOI
10.1002/ana.24753