Familial schwannomatosis, a new entity distinct from neurofibromatosis type 1 and 2;Familiaire schwannomatose, een nieuwe entiteit te onderscheiden van neurofibromatose 1 en 2

Nederlands Tijdschrift voor Geneeskunde

Volumn 151, Issue 34, 2007, Pages 1891-1895

  Reinders, J W C ^a   Koehler, P J ^a  

^a Zuyderland Medical Centre

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22; CLINICAL FEATURE; GENOMICS; GLIOMA; HUMAN; NETHERLANDS; NEURILEMOMA; NEUROFIBROMATOSIS; PAIN; PERIPHERAL NERVE;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; GERM-LINE MUTATION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEURILEMMOMA; NEUROFIBROMATOSES; NEUROFIBROMATOSIS 2; PEDIGREE; SPINAL CORD NEOPLASMS;

EID: 34548613161     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. MacCollin M, Willett C, Heinrich B, Jacoby LB, Acierno jr JS, Perry A, et al. Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology. 2003;60:1968-74.
2. MacCollin M, Woodfin W, Kronn D, Short MP. Schwannomatosis: a clinical and pathologic study. Neurology. 1996;46:1072-9.
3. Seppälä MT, Sainio MA, Haltia MJJ, Kinnunen JJ, Setälä KH, Jääskeläinen JE. Multiple schwannomas: schwannomatosis or neurofibromatosis type 2? J Neurosurg. 1998;89:36-41.
4. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51-7.
5. Antinheimo J, Sankila R, Carpén O, Pukkala E, Sainio M, Jääskeläinen J. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology. 2000;54:71-6.
6. MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, et al. Diagnostic criteria for schwannomatosis. Neurology. 2005;64:1838-45.
7. Kaufman DL, Heinrich BS, Willett C, Perry A, Finseth F, Sobel RA, et al. Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol. 2003;60:1317-20.
8. Hulsebos TJM, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007;80:805-10.