Alexander disease

A Messing, M Brenner, MB Feany… - Journal of …, 2012 - Soc Neuroscience
… acting as the primary culprit in disease is Alexander disease, which is caused by dominant
… how astrocyte function is impaired in Alexander disease, and the strategies we can devise to …

Alexander disease

MS van der Knaap, J Valk - Magnetic Resonance of Myelination and …, 2005 - Springer
Chapter 57 ularly shaped, elongated or round hyaline eosinophilic bodies up to 50mm in
length with a diameter of 1–25mm. They are arranged radially around blood vessels and …

GFAP and its role in Alexander disease

RA Quinlan, M Brenner, JE Goldman… - Experimental cell research, 2007 - Elsevier
Alexander disease. The current data suggest that a combination of events cause the disease.
… These then set in motion events that lead to Alexander disease. We discuss parallels with …

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

D Pareyson, R Fancellu, C Mariotti, S Romano… - Brain, 2008 - academic.oup.com
Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized
pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary …

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

M Brenner, AB Johnson, O Boespflug-Tanguy… - Nature …, 2001 - nature.com
… Our analysis of DNA samples from Alexander disease patients has identified putative
disease-causing mutations in four amino acids in the rod and tail domains of GFAP (Fig. 3). All four …

GFAP mutations in Alexander disease

R Li, A Messing, JE Goldman, M Brenner - International journal of …, 2002 - Elsevier
Alexander disease is a rare but often fatal disease of the … gene are a cause of Alexander
disease. Sequencing results from … in most cases of the disease, including both the infantile and …

Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord

MS Van der Knaap, V Ramesh, R Schiffmann… - Neurology, 2006 - AAN Enterprises
… In this article, we present seven patients with Alexander disease with no or inconspicuous
cerebral white matter abnormalities and no or minimal contrast enhancement. The patients …

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

M Prust, J Wang, H Morizono, A Messing, M Brenner… - Neurology, 2011 - AAN Enterprises
Objective: To characterize Alexander disease (AxD) phenotypes and determine correlations
with age at onset (AAO) and genetic mutation. AxD is an astrogliopathy usually …

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

R Li, AB Johnson, G Salomons, JE Goldman… - Annals of …, 2005 - Wiley Online Library
… of glial fibrillary acidic protein mutations in Alexander disease, we analyzed 41 new patients
and … Alexander disease is a progressive, usually fatal neurological disorder that displays …

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

D Rodriguez, F Gauthier, E Bertini, M Bugiani… - The American Journal of …, 2001 - cell.com
Alexander disease. We searched for GFAP mutations in a series of patients who had
heterogeneous clinical symptoms but were candidates for Alexander diseaseAlexander disease, …