Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene

Journal of the Neurological Sciences

Volumn 345, Issue 1, 2014, Pages 236-238

  Denier, Christian ^a   Balu, Laurent ^a   Husson, Béatrice ^a   Nasser, Ghaidaa ^a   Burglen, Lydie ^b   Rodriguez, Diana ^c   Labauge, Pierre ^d   Chevret, Laurent ^a  

^a BICÊTRE HOSPITAL   (France)

^b SERVICE DE DERMATOLOGIE   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d Clinical Gerontology Centre   (France)

Author keywords

Acute necrotizing encephalopathy; IIAE3; Infection induced acute encephalopathy 3; RANBP2

Indexed keywords

ACUTE BRAIN DISEASE; ADULT; ADULTHOOD; AMYGDALOID NUCLEUS; ARTICLE; ARTIFICIAL VENTILATION; ATAXIA; AUTOSOMAL DOMINANT ACUTE NECROTIZING ENCEPHALOPATHY; AUTOSOMAL DOMINANT DISORDER; BASAL GANGLION; BRAIN ATROPHY; BRAIN DAMAGE; BRAIN STEM; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHILDHOOD; CLINICAL FEATURE; COGNITIVE DEFECT; COMA; COMPUTER ASSISTED TOMOGRAPHY; CONFUSION; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAM; FACIAL NERVE PARALYSIS; FAMILY STUDY; FEMALE; FEVER; GENE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HEMIPLEGIA; HETEROZYGOTE; HIPPOCAMPUS; HUMAN; INFANT; INFLUENZA; INSULA; LEIGH DISEASE; MALE; MESENCEPHALON; MIDDLE AGED; MULTIPLE SCLEROSIS; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHYSICAL DISABILITY; PONS; PRESCHOOL CHILD; QUADRIPLEGIA; RADIOLOGY; RANBP2 GENE; RHINOPHARYNGITIS; SCHOOL CHILD; SEIZURE; TEMPORAL LOBE; THALAMUS; TONIC CLONIC SEIZURE; VIRUS ENCEPHALITIS; VIRUS INFECTION; BRAIN; ENCEPHALOMYELITIS; FAMILY HEALTH; GENETICS; MUTATION; PATHOLOGY;

CHAPERONE; NUCLEOPORIN; RAN-BINDING PROTEIN 2;

BRAIN; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; HUMANS; LEUKOENCEPHALITIS, ACUTE HEMORRHAGIC; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUTATION; NUCLEAR PORE COMPLEX PROTEINS;

EID: 84908206865     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.07.025     Document Type: Article

References (10)

1. M. Mizuguchi, J. Abe, K. Mikkaichi, S. Noma, K. Yoshida, and T. Yamanaka Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions J Neurol Neurosurg Psychiatry 58 1995 555 561
2. D.E. Neilson, R.M. Eiben, S. Waniewski, C.L. Hoppel, M.E. Varnes, and B.A. Bangert Autosomal dominant acute necrotizing encephalopathy Neurology 61 2003 226 230
3. D.E. Neilson, M.D. Adams, C.M. Orr, D.K. Schelling, R.M. Eiben, and D.S. Kerr 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 2009 44 51
4. N.R. Loh, and D.B. Appleton Untreated recurrent acute necrotising encephalopathy associated with RANBP2 mutation, and normal outcome in a Caucasian boy Eur J Pediatr 169 2010 1299 1302
5. A.D. Gika, P. Rich, S. Gupta, D.E. Neilson, and A. Clarke Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family Dev Med Child Neurol 52 2010 99 102
6. T. Lönnqvist, P. Isohanni, L. Valanne, T. Olli-Lähdesmäki, A. Suomalainen, and H. Pihko Dominant encephalopathy mimicking mitochondrial disease Neurology 76 2011 101 103
7. K. Wolf, T. Schmitt-Mechelke, S. Kollias, and A. Curt Acute necrotizing encephalopathy (ANE1): rare autosomal-dominant disorder presenting as acute transverse myelitis J Neurol 260 2013 1545 1553
8. C. Di Meglio, A. Cano, M. Milh, N. Girard, L. Burglen, and B. Chabrol Postinfectious family case of acute necrotizing encephalopathy caused by RANBP2 gene mutation Arch Pediatr 21 2014 73 77
9. A. Okumura, M. Mizuguchi, H. Kidokoro, M. Tanaka, S. Abe, and M. Hosoya Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin Brain Dev 31 2009 221 227
10. L. Bergamino, V. Capra, R. Biancheri, A. Rossi, A. Tacchella, and L. Ambrosini Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful? Brain Dev 34 2012 384 391