Alexander's disease: Reassessment of a neonatal form

Child's Nervous System

Volumn 28, Issue 12, 2012, Pages 2029-2031

  Singh, Navneet ^a   Bixby, Catherine ^a   Etienne, Denzil ^a   Tubbs, R Shane ^c   Loukas, Marios ^a,b  

^a ST GEORGE S UNIVERSITY   (Grenada)

^b Medical School Varmia and Mazuria   (Poland)

^c CHILDREN S HOSPITAL   (United States)

Author keywords

Alexander disease; Infantile; Leukodystrophy; Neonatal

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; ATAXIA; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HYPERREFLEXIA; INTRACTABLE EPILEPSY; LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVIEW; TONIC CLONIC SEIZURE;

ALEXANDER DISEASE; DIAGNOSIS, DIFFERENTIAL; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; NEOPLASMS; NEUROIMAGING;

EID: 84871251314     PISSN: 02567040     EISSN: 14330350     Source Type: Journal    
DOI: 10.1007/s00381-012-1868-8     Document Type: Review

References (15)

1. Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Gen 27:117-120
2. Gorospe JR (1993) Alexander disease. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) GeneReviews. Seattle (WA)
3. Hsiao VC, Tian R, Long H, Der Perng M, Brenner M, Quinlan RA, Goldman JE (2005) Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP. J Cell Sci 118(Pt 9):2057-2065
4. Johnson AB, Brenner M (2003) Alexander's disease: Clinical, pathologic, and genetic features. J Child Neurol 18:625-632
5. Messing A, Daniels CM, Hagemann TL (2010) Strategies for treatment in Alexander disease. Neurotherapeutics 7:507-515
6. Pridmore CL, Baraitser M, Harding B, Boyd SG, Kendall B, Brett EM (1993) Alexander's disease: Clues to diagnosis. J Child Neurol 8:134-144
7. Prust M, Wang J, Morizono H, Messing A, Brenner M, Gordon E, Hartka T, Sokohl A, Schiffmann R, Gordish-Dressman H, Albin R, Amartino H, Brockman K, Dinopoulos A, Dotti MT, Fain D, Fernandez R, Ferreira J, Fleming J, Gill D, Griebel M, Heilstedt H, Kaplan P, Lewis D, NakagawaM, Pedersen R, Reddy A, Sawaishi Y, Schneider M, Sherr E, Takiyama Y, Wakabayashi K, Gorospe JR, Vanderver A (2011) GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology 77:1287-1294
8. RodriguezD,Gauthier F, Bertini E, BugianiM, Brenner M,N'Guyen S, Goizet C, Gelot A, Surtees R, Pedespan JM, Hernandorena X, Troncoso M, Uziel G, Messing A, Ponsot G, Pham-Dinh D, Dautigny A, Boespflug-Tanguy O (2001) Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 69:1134-1140
9. Russo LS Jr, Aron A, Anderson PJ (1976) Alexander's disease: A report and reappraisal. Neurology 26:607-614
10. Springer S, Erlewein R, Naegele T, Becker I, Auer D, Grodd W, Krageloh-Mann I (2000) Alexander disease-classification revisited and isolation of a neonatal form. Neuropediatrics 31:86-92
11. Townsend JJ, Wilson JF, Harris T, Coulter D, Fife R (1985) Alexander's disease. Acta Neuropathol 67:163-166
12. van der Knaap MS, Naidu S, Breiter SN, Blaser S, Stroink H, Springer S, Begeer JC, van Coster R, Barth PG, Thomas NH, Valk J, Powers JM (2001) Alexander disease: Diagnosis with MR imaging. AJNR 22:541-552
13. van der Knaap MS, Salomons GS, Li R, Franzoni E, Gutierrez-Solana LG, Smit LM, Robinson R, Ferrie CD, Cree B, Reddy A, Thomas N, Banwell B, Barkhof F, Jakobs C, Johnson A, Messing A, Brenner M (2005) Unusual variants of Alexander's disease. Ann Neurol 57:327-338
14. Van Poppel K, Broniscer A, Patay Z, Morris EB (2009) Alexander disease: An important mimicker of focal brainstem glioma. Pediat Blood Cancer 53:1355-1356
15. Vazquez E, Macaya A, Mayolas N, Arevalo S, Poca MA, Enriquez G (2008) Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR 29:1973-1975