Schwannomatosis (SWN): clinical features
Evidence-based neurology checklist on schwannomatosis (swn): clinical features: Genetic mutations SMARCB1 LZTR1 The mutations are on chromosome 22 The transmission is autosomal dominant It is familial in 15-25% of cases Most cases are sporadic: de novo mutations Demographic features Presenting…
Genetic mutations
- SMARCB1
- LZTR1
- The mutations are on chromosome 22
- The transmission is autosomal dominant
- It is familial in 15-25% of cases
- Most cases are sporadic: de novo mutations
Demographic features
Presenting features
Synonym
References
- MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology 2005; 64:1838-1845.
- Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR. Clinical features of schwannomatosis: a retrospective analysis of 87 patients. Oncologist 2012; 17:1317-1322.
- Evans DG, Mason S, Huson SM, Ponder M, Harding AE, Strachan T. Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study. JNNP 1997; 62:361-366.
- Plotkin SR, Blakeley JO, Evans DG, et al. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A 2013; 161A:405-416.
- Mehta GU, Feldman MJ, Wang H, Ding D, Chittiboina P. Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation. J Neurosurg 2016; 125:1469-1471.
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