Accumulation of non-compressive fascicular lesions underlies NF2 polyneuropathy

Journal of Neurology

Volumn 260, Issue 1, 2013, Pages 38-46

  Baumer P ^a   Mautner, V F ^b   Baumer T ^b   Schuhmann, M U ^c   Tatagiba, M ^c   Heiland, S ^a   Kaestel, T ^a   Bendszus, M ^a   Pham, M ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Magnetic resonance imaging; MR neurography; Neurofibromatosis 2; Polyneuropathy

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; GENETIC ANALYSIS; HUMAN; MALE; NEUROFIBROMATOSIS; NEUROGRAPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NERVE TUMOR; POLYNEUROPATHY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS;

ADULT; ANKLE; CHILD; CHROMOSOMES, HUMAN, PAIR 22; ELECTROMYOGRAPHY; EXTREMITIES; FEMALE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NEURAL CONDUCTION; NEUROFIBROMATOSIS 2; PERIPHERAL NERVES; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; REFLEX; YOUNG ADULT;

EID: 84872288111     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6581-8     Document Type: Article

References (31)

1. Baser ME, Evans DG, Gutmann DH (2003) Neurofibromatosis 2. Curr Opin Neurol 16(1):27-33. doi: 10.1097/01.wco.0000053583.70044.ab
2. Gutmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278(1):51-57
3. Evans DG, Baser ME, O'Reilly B, Rowe J, Gleeson M, Saeed S, King A, Huson SM, Kerr R, Thomas N, Irving R, MacFarlane R, Ferner R, McLeod R, Moffat D, Ramsden R (2005) Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 19(1):5-12. doi: 10.1080/02688690500081206
4. Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DG (2011) Empirical development of improved diagnostic criteria for neurofibromatosis 2. Genet Med 13(6):576-581. doi: 10.1097/GIM.0b013e318211faa9
5. Evans DG (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16. doi: 10.1186/1750-1172-4-16
6. Onishi A, Nada O (1972) Ultrastructure of the onion bulb-like lamellated structure observed in the sural nerve in a case of von Recklinghausen's disease. Acta Neuropathol 20(3):258-263
7. Bosch EP, Murphy MJ, Cancilla PA (1981) Peripheral neurofibromatosis and peroneal muscular atrophy. Neurology 31(11):1408-1414
8. Thomas PK, King RH, Chiang TR, Scaravilli F, Sharma AK, Downie AW (1990) Neurofibromatous neuropathy. Muscle Nerve 13(2):93-101. doi: 10.1002/mus.880130202
9. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R (1992) A clinical study of type 2 neurofibromatosis. Q J Med 84(304):603-618
10. Kilpatrick TJ, Hjorth RJ, Gonzales MF (1992) A case of neurofibromatosis 2 presenting with a mononeuritis multiplex. J Neurol Neurosurg Psychiatry 55(5):391-393
11. Overweg-Plandsoen WC, Brouwer-Mladin R, Merel P, de Vries L, Bijlsma EK (1996) Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene. J Neurol 243(10):724-726
12. Iwata A, Kunimoto M, Inoue K (1998) Schwann cell proliferation as the cause of peripheral neuropathy in neurofibromatosis-2. J Neurol Sci 156(2):201-204. doi: S0022-510X(98)00032-X
13. Hagel C, Lindenau M, Lamszus K, Kluwe L, Stavrou D, Mautner VF (2002) Polyneuropathy in neurofibromatosis 2: clinical findings, molecular genetics and neuropathological alterations in sural nerve biopsy specimens. Acta Neuropathol 104(2):179-187. doi: 10.1007/s00401-002-0535-7
14. Sperfeld AD, Hein C, Schroder JM, Ludolph AC, Hanemann CO (2002) Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain 125(Pt 5):996-1004
15. Kuo HC, Chen SR, Jung SM, Wu Chou YH, Huang CC, Chuang WL, Wei KC, Ro LS (2010) Neurofibromatosis 2 with peripheral neuropathies: electrophysiological, pathological and genetic studies of a Taiwanese family. Neuropathology. doi: 10.1111/j.1440-1789.2009.01099.x
16. Trivedi R, Byrne J, Huson SM, Donaghy M (2000) Focal amyotrophy in neurofibromatosis 2. J Neurol Neurosurg Psychiatry 69(2):257-261
17. Gijtenbeek JM, Gabreels-Festen AA, Lammens M, Zwarts MJ, van Engelen BG (2001) Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2. Neurology 56(12):1766-1768
18. Grazzi L, Chiapparini L, Parati EA, Giombini S, D'Amico D, Leone M, Bussone G (1998) Type II neurofibromatosis presenting as quadriceps atrophy. Ital J Neurol Sci 19(2):94-96
19. Cai W, Kassarjian A, Bredella MA, Harris GJ, Yoshida H, Mautner VF, Wenzel R, Plotkin SR (2009) Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology 250(3):665-673. doi: 10.1148/radiol.2503080700
20. Bendszus M, Stoll G (2005) Technology insight: visualizing peripheral nerve injury using MRI. Nat Clin Pract Neurol 1(1):45-53. doi: 10.1038/ncpneuro0017
21. Stoll G, Bendszus M, Perez J, Pham M (2009) Magnetic resonance imaging of the peripheral nervous system. J Neurol 256(7):1043-1051. doi: 10.1007/s00415-009-5064-z
22. Pham M, Sommer C, Wessig C, Monoranu CM, Perez J, Stoll G, Bendszus M (2010) Magnetic resonance neurography for the diagnosis of extrapelvic sciatic endometriosis. Fertil Steril 94(1):351.e11-351.e14. doi: 10.1016/j.fertnstert. 2009.12.046
23. Pham M, Wessig C, Brinkhoff J, Reiners K, Stoll G, Bendszus M (2011) MR neurography of sciatic nerve injection injury. J Neurol. doi: 10.1007/s00415-010-5895-7
24. Baumer P, Dombert T, Staub F, Kaestel T, Bartsch AJ, Heiland S, Bendszus M, Pham M (2011) Ulnar neuropathy at the elbow: MR neurography-nerve T2 signal increase and caliber. Radiology 260(1):199-206. doi: 10.1148/radiol.11102357
25. Pham M, Oikonomou D, Baumer P, Bierhaus A, Heiland S, Humpert PM, Nawroth PP, Bendszus M (2011) Proximal neuropathic lesions in distal symmetric diabetic polyneuropathy: findings of high-resolution magnetic resonance neurography. Diabetes Care 34(3):721-723. doi: 10.2337/dc10-1491
26. Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG (2010) Further genotype-phenotype correlations in neurofibromatosis 2. Clin Genet 77(2):163-170. doi: 10.1111/j.1399-0004.2009.01315.x
27. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52(4):450-461. doi: 10.1002/ajmg.1320520411
28. Stemmer-Rachamimov AO, Ino Y, Lim ZY, Jacoby LB, MacCollin M, Gusella JF, Ramesh V, Louis DN (1998) Loss of the NF2 gene and merlin occur by the tumorlet stage of schwannoma development in neurofibromatosis 2. J Neuropathol Exp Neurol 57(12):1164-1167
29. Does MD, Snyder RE (1996) Multiexponential T2 relaxation in degenerating peripheral nerve. Magn Reson Med 35(2):207-213
30. Bendszus M, Wessig C, Solymosi L, Reiners K, Koltzenburg M (2004) MRI of peripheral nerve degeneration and regeneration: correlation with electrophysiology and histology. Exp Neurol 188(1):171-177. doi: 10.1016/j.expneurol.2004.03.025S0014488604001293
31. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Strachan T, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet 29(12):847-852