GFAP mutations, age at onset, and clinical subtypes in Alexander disease

To characterize Alexander disease (AxD) phenotypes and determine correlations with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually characterized on MRI by leukodystrophy and caused by glial fibrillary acidic protein (GFAP) mutations. We present 30 new cases of AxD and revie...

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Veröffentlicht in:	Neurology 2011-09, Vol.77 (13), p.1287-1294
Hauptverfasser:	PRUST, M, WANG, J, ALBIN, R, AMARTINO, H, BROCKMAN, K, DINOPOULOS, A, DOTTI, M. T, FAIN, D, FERNANDEZ, R, FERREIRA, J, FLEMING, J, GILL, D, MORIZONO, H, GRIEBEL, M, HEILSTEDT, H, KAPLAN, P, LEWIS, D, NAKAGAWA, M, PEDERSEN, R, REDDY, A, SAWAISHI, Y, SCHNEIDER, M, SHERR, E, MESSING, A, TAKIYAMA, Y, WAKABAYASHI, K, GOROSPE, J. R, VANDERVER, A, BRENNER, M, GORDON, E, HARTKA, T, SOKOHL, A, SCHIFFMANN, R, GORDISH-DRESSMAN, H
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Factors Age of Onset Alexander Disease - classification Alexander Disease - genetics Alexander Disease - mortality Bayes Theorem Biological and medical sciences Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Mutational Analysis Exons - genetics Female Glial Fibrillary Acidic Protein - genetics Humans Logistic Models Male Medical sciences Mutation - genetics Neurology Retrospective Studies Survival Analysis Young Adult
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