An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

Journal of Neurology

Volumn 256, Issue 4, 2009, Pages 679-682

  Dotti, Maria Teresa ^a   Buccoliero, Rosaria ^a   Lee, Andrew ^b   Gorospe, J Raphael ^c   Flint, Daniel ^b   Galluzzi, Paolo ^d   Bianchi, Silvia ^a   D'Eramo, Camilla ^a   Naidu, Sakkubai ^e   Federico, Antonio ^a   Brenner, Michael ^b  

^a UNIVERSITY OF SIENA   (Italy)

^b University of Alabama at Birmingham   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

^e DEPARTMENT OF PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUTAMIC ACID; GLUTAMINE; HISTIDINE;

ALEXANDER DISEASE; ALLELE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; INFANT; LETTER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TISSUE STRUCTURE;

ALEXANDER DISEASE; BRAIN; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; FEMALE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION, MISSENSE; PROTEIN MULTIMERIZATION;

EID: 65749085855     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-0147-4     Document Type: Letter

References (11)

1. Brenner M, Goldman JE, Quinlan R, Messing A (2009) Alexander disease: a genetic disorder of astrocytes. In: Parpura V and Haydon P (eds) Astrocytes in (patho)physiology of the nervous system. Springer, Boston, MA, pp 591-648
2. Brenner 2001 Nat Genet 27 117
3. Brockmann 2003 Eur Neurol 50 100
4. Gorospe 2002 Neurology 58 1494
5. Li 2005 Ann Neurol 57 310
6. Li 2006 Hum Genet 119 137
7. Rodriguez 2001 Am JHum Gen 69 1134
8. Stevanin 2007 Nat Genet 39 366
9. van der Knaap 2001 AJNR 22 541
10. van der Knaap 2006 Neurology 66 494
11. Winner 2006 Clin Neurol Neurosurg 108 692