Annals of neurology, 2016-10, Vol.80 (4), p.625-628
2016
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis
- Ist Teil von
- Annals of neurology, 2016-10, Vol.80 (4), p.625-628
- Ort / Verlag
- United States: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2016
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0364-5134eISSN: 1531-8249DOI: 10.1002/ana.24753Titel-ID: cdi_proquest_miscellaneous_1827893152
- Format
- –
- Schlagworte
- Adult, DNA Mutational Analysis, Female, Germ-Line Mutation, Humans, Lower Extremity - diagnostic imaging, Lower Extremity - innervation, Lumbosacral Plexus - diagnostic imaging, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Neurilemmoma - diagnostic imaging, Neurilemmoma - genetics, Neurofibromatoses - diagnostic imaging, Neurofibromatoses - genetics, Peripheral Nerves - diagnostic imaging, Skin Neoplasms - diagnostic imaging, Skin Neoplasms - genetics, Transcription Factors - genetics, Upper Extremity - diagnostic imaging, Upper Extremity - innervation