Premium
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis
Author(s) -
Farschtschi Said,
Mautner VictorFelix,
Pham Mirko,
Nguyen Rosa,
KehrerSawatzki Hildegard,
Hutter Sonja,
Friedrich Reinhard E.,
Schulz Alexander,
Morrison Helen,
Jones David T. W.,
Bendszus Martin,
Bäumer Philipp
Publication year - 2016
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.24753
Subject(s) - smarcb1 , magnetic resonance neurography , germline , magnetic resonance imaging , medicine , schwannoma , germline mutation , pathology , mutation , neurofibromatoses , genetic testing , biology , radiology , genetics , neurofibromatosis , gene , chromatin remodeling , chromatin
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