Acute necrotizing encephalopathy (ANE1): Rare autosomal-dominant disorder presenting as acute transverse myelitis

Journal of Neurology

Volumn 260, Issue 6, 2013, Pages 1545-1553

  Wolf, Katharina ^a   Schmitt Mechelke, Thomas ^b   Kollias, Spyridon ^c   Curt, Armin ^a  

^a BALGRIST UNIVERSITY HOSPITAL   (Switzerland)

^b CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

Acute disseminating encephalomyelitis; Acute necrotizing encephalopathy; Spinal cord injury; Transverse myelitis; Transverse myelopathy

Indexed keywords

DEXAMETHASONE;

ACUTE TRANSVERSE MYELITIS; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; ELECTROPHYSIOLOGY; FEMALE; GAIT; GENE SEGREGATION; GENETIC DISORDER; GLASGOW COMA SCALE; HUMAN; LEIGH DISEASE; MISSENSE MUTATION; MULTIPLE SCLEROSIS; MYELITIS; MYELOOPTIC NEUROPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAPLEGIA; PRIORITY JOURNAL; QUADRIPLEGIA; RARE DISEASE; STEROID THERAPY; VASCULAR DISEASE;

ADULT; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; MALE; MOLECULAR CHAPERONES; MUTATION, MISSENSE; MYELITIS, TRANSVERSE; NUCLEAR PORE COMPLEX PROTEINS; PEDIGREE;

EID: 84878841019     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6825-7     Document Type: Article

References (69)

1. Miller FG, Ross AG (1931) Acute transverse myelitis complicating measles. Can Med Assoc J 25(6):709-710
2. Ropper AH, Poskanzer DC (1978) The prognosis of acute and subacute transverse myelopathy based on early signs and symptoms. Ann Neurol 4(1):51-59 (Pubitemid 8378202)
3. Berman M, Feldman S, Alter S et al (1981) Acute transverse myelitis: incidence and etiologic considerations. Neurology 31:966-971 (Pubitemid 11061734)
4. Jeffery DR, Mandler RN, Davis LE (1993) Transverse myelitis. Retrospective analysis of 33 cases, with differentiation of cases associated with multiple sclerosis and parainfectious events. Arch Neurol 50:532-535 (Pubitemid 23143146)
5. Transverse Myelitis Consortium Group (2002) Proposed diagnostic criteria and nosology of acute transverse myelitis. Neurology 59:499-505
6. de Seze J, Stojkovic T, Breteau G et al (2001) Acute myelopathies: clinical, laboratory and outcome profiles in 79 cases. Brain 124:1509-1521 (Pubitemid 32726765)
7. Frohman EM, Wingerchuk DM (2010) Transverse myelitis. N Engl J Med 363:564-572
8. Schmalstieg WF, Weinshenker BG (2010) Approach to acute or subacute myelopathy. Neurology 75:2-8
9. Neilson DE, Adams MD, Orr C et al (2009) Infection-triggered familial or recurrent cases of Acute Necrotizing Encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 84:44-51
10. Krishnan C, Kaplin AI, Deshpande DM et al (2004) Transverse myelitis: pathogenesis, diagnosis and treatment. Front Biosci 9:1483-1499 (Pubitemid 39060856)
11. Scott TF, Kassab SL, Singh S (2005) Acute partial transverse myelitis with normal cerebral magnetic resonance imaging: transition rate to clinically definite multiple sclerosis. Mult Scler 11:373-377 (Pubitemid 40984228)
12. Young J, Quinn S, Hurrel M et al (2009) Clinically isolated acute transverse myelitis: prognostic features and incidence. Mult Scler 15:1295-1302
13. Klein NP, Ray P, Carpenter D et al (2010) Rates of autoimmune diseases in Kaiser Permanent for use in vaccine adverse event safety studies. Vaccine 28:1062-1068
14. Pidcock FS, Krishnan C, Crawford TO et al (2007) Acute transverse myelitis in childhood: center-based analysis of 47 cases. Neurology 68:1474-1480 (Pubitemid 46685917)
15. Banwel B, Kennedy J, Sadovnick D et al (2009) Incidence of acquired demyelination of the CNS in Canadian children. Neurology 72:232-239
16. de Seze J, Lanctin C, Lebrun C et al (2005) Ideopathic acute transverse myelitis: application of the recent diagnostic criteria. Neurology 65:1950-1953 (Pubitemid 43970116)
17. Polman CH, Reingold SC, Banwell B et al (2011) Diagnostic Criteria for multiple sclerosis: 2010 Revision of the McDonald criteria. Ann Neurol 69:292-302
18. Borchers AT, Gershwin ME (2012) Transverse myelitis. Autoimmun Rev 11:231-248
19. Scott TF (2007) Nosology of ideopathic transverse myelitis syndromes. Acta Neurol Scand 115:371-376 (Pubitemid 46776329)
20. Sellner J, Luthi N, Buhler R et al (2008) Acute partial transverse myelitis: risk factors for conversion to multiple sclerosis. Eur J Neurol 15:398-405 (Pubitemid 351422397)
21. Cordonnier C, de Seze J, Breteau G et al (2003) Prospective study of patients presenting with acute partial transverse myelopathy. J Neurol 250:1442-1452 (Pubitemid 38121841)
22. Ford B, Tampieri D, Francis G (1992) Long-term follow-up of acute partial transverse myelopathy. Neurology 42:250-252
23. Wingerchuk DM, Lennon VA, Pittock SJ et al (2006) Revised diagnostic criteria for neuromyelitis optica. Neurology 66(10):1485-1489 (Pubitemid 43958540)
24. Weinshenker BG, Wingerchuk DM, Vukusic S et al (2006) Neuromyelitis optica IgG predicts relaps after longitudinally extensive transverse myelitis. Ann Neurol 59(3):566-569 (Pubitemid 43358081)
25. Martiello M, Lennon VA, Jacob A et al (2008) NMO-IgG predicts the outcome of recurrent optic neuritis. Neurology 70(23):2194-2200
26. Coulter I, Huda S, Baborie A et al (2012) Longitudinally extensive transverse myelitis as the sole presentation of neuro-Behcet's disease responding to infliximab. J Spinal Cord Med 35(2):122-124
27. Eckstein C, Saidha S, Levy M (2012) A differential diagnosis of central nervous system demyelinisation: beyond multiple sclerosis. J Neurol 259:801-816
28. Haan J, Haupts M, Uhlenbrock D (1987) Magnetic resonance imaging (MRI), cranial computerized tomography (CCT), evoked potentials and cerebrospinal fluid (CSF) analysis in five patients with funicular myelosis. Neurosurg Rev 10(3):209-2011
29. Habek M, Adamec I, Pavlisa G et al (2012) Diagnostic approach of patients with longitudinally extensive transverse myelitis. Acta Neurol Belg 112(1):39-43
30. Kincaid O, Lipton HL (2006) Viral myelitis: an update. Curr Neurol Neurosci Rep 6(6):469-474 (Pubitemid 44742114)
31. Rigamonti A, Usai S, Ciusani E et al (2005) Atypical transverse myelitis due to cytomegalovirus in a immunocompetent patient. Neurol Sci 26:351-354 (Pubitemid 43091347)
32. Tyler KL, Gross RA, Cascino GD (1986) Unusual viral causes of transverse myelitis: hepatitis A virus and cytomegalovirus. Neurology 36:855-858 (Pubitemid 16056232)
33. Yylmaz S, Koseolu HK, Yucel E (2007) Transverse myelitis caused by varicella zoster: case reports. Braz Infect Dis 11:179-181 (Pubitemid 47024122)
34. Karunarathne S, Govindapala D, Udayakumara Y et al (2012) Cytomegalovirus associated transverse myelitis in an immunocompetent host with DNA detection in cerebrospinal fluid: a case report. BMC Res Notes 5(1):364 [Epub ahead of print]
35. Sanefuji M, Ohga S, Kira R et al (2008) Epstein-Barr virus-associated meningoencephalolmyelitis: intrathecal reactivation of the virus in an immunocompetent child. J Child Neurol 23(9):1072-1077
36. Bhat A, Naguwa S, Cheema G et al (2010) The epidemiology of transverse myelitis. Autoimmun Rev 9(5):A395-A399
37. Krishnan C, Kaplin AI, Graber JS et al (2005) Recurrent transverse myelitis following neurobrucellosis: immunologic features and beneficial response to immunosuppression. J Neurovirol 11(2):225-231 (Pubitemid 40852430)
38. Shakir RA, Al-Din AS, Araj GF et al (1987) Clinical categories of neurobrucellosis. A report of 19 cases. Brain 110(1):213-223 (Pubitemid 17011345)
39. Crook T, Bannister B (1996) Acute transverse myelitis associated with Chlamydia psittaci infection. J Infect 32(2):151-152 (Pubitemid 26131698)
40. Bigi S, Aebi C, Nauer C et al (2010) Acute transverse myelitis in Lyme neuroborreliosis. Infection 38:413-416
41. Kayal AK, Goswami M, Das M et al (2011) Clinical spectrum of neurosyphilis in North East India. Neurol India 59(3):344-350
42. Garg RK, Sharma R, Kar AM, Kushawa RA et al (2010) Neurological complications of miliary tuberculosis. Clin Neurol Neurosurg 112(3):188-192
43. Alper G, Petropoulou P, Fitz CR et al (2011) Ideopathic acute transverse myelitis in children: an analysis and discussion of MRI findings. Mult Scler 17(1):74-80
44. Al Deeb SM, Yaqub BA, Bruyn GW et al (1997) Acute transverse myelitis - a localized form of post-infectious encephalomyelitis. Brain 120:1115-1122 (Pubitemid 27285730)
45. Young NP, Weinshenker BG, Lucchinetti CF (2008) Acute disseminated encephalomyelitis: current understanding and controversies. Semin Neurol 28(1):84-94 (Pubitemid 351273086)
46. Miller DH, Weinshenker BG, Filippi M et al (2008) Differential diagnosis of suspected multiple sclerosis: a consensus approach. Mult Scler 14(9):1157-1174
47. Jacob A, Weinshenker BG (2008) An approach to the diagnosis of acute transverse myelitis. Semin Neurol 28(1):105-120 (Pubitemid 351273088)
48. Keegan M, Pittock S, Lennon V (2008) Autoimmune myelopathy associated with collapsin response-mediator protein-5 immunoglobulin G. Ann Neurol 63(4):531-534 (Pubitemid 351614719)
49. Eiben RM, Dooley JP, Stowes SM et al (1965) Subacute necrotizing encephalopathy in infancy. Neurology 15:293 (Abstract)
50. Mizuguchi M (1997) Acute necrotizing encephalopathy of childhood: a novel form of acute encephalopathy prevalent in Japan and Taiwan. Brain Dev 19:81-92 (Pubitemid 27135929)
51. Mastroyianni SD, Gionnis D, Voudris K et al (2006) Acute necrotizing encephylopathy of childhood in non-Asian patients: report of three cases and literature review. Child Neurol 21:872-879 (Pubitemid 46099275)
52. Campistol J, Gassio R, Pineda M et al (1998) Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases. Dev Med Child Neurol 40:771-774 (Pubitemid 28544814)
53. Saji N, Yamamoto N, Yoda J et al (2006) Adult case of acute encephalopathy associated with bilateral thalamic lesions and peripheral neuropathy. No To Shinkei 58:1009-1014 (article in Japanese) (Pubitemid 44870948)
54. Miyata E (2002) An adult case of acute necrotizing encephalopathy. No To Shinkei 54:354-355 (article in Japanese) (Pubitemid 34496283)
55. Nakamura Y, Miura K, Yamada I et al (2000) A novel adult case of acute necrotizing encephalopathy of childhood with bilateral symmetric thalamic lesions. Rinsho Shinkeigaku 40:827-831 (article in Japanese) (Pubitemid 32173032)
56. Fasano A, Natoli GF, Cianfoni A et al (2007) Acute necrotizing encephalopathy. A relapsing case in an European adult. J Neuro Neurosurg Psychiatry 79(2):227-228
57. Kato H, Hasegawa H, Iijima M et al (2007) Brain magnetic resonance imaging of an adult case of acute necrotizing encephalopathy. J Neurol 254:1135-1137 (Pubitemid 47353411)
58. Mizuguchi M, Yamanouchi H, Ichiyama T et al (2007) Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand 115:45-56 (Pubitemid 46376171)
59. Mizoguchi M, Hayashi M, Nakano I et al (2002) Concentric structure of thalamic lesions in acute necrotizing encephalopathy. Neuroradiology 44:489-493 (Pubitemid 36067840)
60. Kansagra SM, Gallentine WB (2011) Cytokine storm of acute necrotizing encephalopathy. Ped Neurol 45(6):400-402
61. Okumura A, Mizoguchi M, Kidokoro H et al (2009) Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin. Brain Dev 31(3):221-227
62. Neilson DE, Eiben RM, Winiewski S et al (2003) Autosomal dominant acute necrotizing encephalopathy. Neurology 61:226-230 (Pubitemid 36875305)
63. Neilson DE, Feiler HS, Wilhelmsen KC et al (2004) Autosomal dominant acute necrotizing encephalopathy maps to 2q12.1-2q. Ann Neurol 55:291-294 (Pubitemid 38167008)
64. Bergamino L, Capra V, Biancheri R et al (2012) Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful? Brain Dev 35(5):384-391
65. Cho KI, Cai Y, Yi H et al (2007) Association of the kinesin-binding domain of RanBP2 to KIF5B and KIF5C determines mitochondria localization and funktion. Traffic 8:1722-1735 (Pubitemid 350066685)
66. Aslanukov A, Bhowmick R, Guruju M et al (2006) RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficites in glucose metabolism. PLoS Genet 2(10):e177 (Pubitemid 44656539)
67. Belay ED, Bresee JS, Holman RC et al (1999) Reye's Syndrom in the United States from 1981 trough 1997. N Eng J Med 340(18):1377-1382 (Pubitemid 29205400)
68. Neri M, Cantatore S, Pomara I et al (2011) Immunohistochemichal expression of proinflammatory cytokines Il-1beta, Il-6, TNF-alpha and involvement of COX-2, quantitatively confirmed by Western blot analysis. Wernicke's encephalopathy. Pathol Res Pract 207(10):652-658
69. Brown GK, Squier MV (1996) Neuropathology and pathogenesis of mitochondrial diseases. J Inher Metab Dis 19(4):553-572 (Pubitemid 26302531)