Results 51 to 60 of about 306,111 (180)

Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes

Journal of Neuroinflammation, 2021
Background Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes.
Michelle M. Boyd, Suzanne J. Litscher, Laura L. Seitz, Albee Messing, Tracy L. Hagemann, Lara S. Collier   +5 more
doaj   +1 more source

Nitric oxide mediates glial-induced neurodegeneration in Alexander disease [PDF]

, 2016
Glia play critical roles in maintaining the structure and function of the nervous system; however, the specific contribution that astroglia make to neurodegeneration in human disease states remains largely undefined.
Hagemann, Tracy L., Albee Messing, Kalwa, Hermann, Mel B. Feany, Michel, Thomas, Liqun Wang, Feany, Mel, Tracy L. Hagemann, Hermann Kalwa, Thomas Michel, Wang, Liqun, Messing, Albee   +11 more
core   +1 more source

Alexander disease with periventricular calcification: a novel mutation of the GFAP gene

, 2010
Alexander disease is a rare neurodegenerative leucoencephalopathy caused by de novo mutations in the GFAP gene. Infantile, juvenile, and adult subtypes have been described and the clinical and radiological phenotypes are broad. Here we report on a single
van der Knaap, M.S., MARJO S VAN DER KNAAP, Jayawant, S., MICHAEL ABSOUD, JOHN H LIVINGSTON, Absoud, M., Jain, R., Livingston, J.H., RAKESH JAIN, SANDEEP JAYAWANT, Knaap, M.S. van der, ROSALIND J JEFFERSON, Jefferson, R.J.   +12 more
core   +2 more sources

An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP [PDF]

, 2006
Alexander disease is a degenerative white matter disorder due to mutations in the glial fibrillary acidic protein (GFAP) gene. It has been classified into three forms based on the age of onset and severity: an infantile, a juvenile, and an adult form. In
Okamoto, Takayuki, Saitoh, Shinji, Asahina, Naoko, Sudo, Akira, Kanazawa, Naomi, Tsujino, Seiichi   +5 more
core   +1 more source

Acute onset of adult Alexander disease

, 2013
Adult-onset Alexander disease (AOAD) is a rare leukoencephalopathy affecting predominantly the brainstem and cervical cord with insidious onset of clinical features. Acute onset is very rare and has yet been described only twice, to our knowledge.
Kretzschmar, Benedikt, Schramm, Peter, Ohlenbusch, Andreas, Schmidt, Holger, Otto, Markus, Lingor, Paul, Pauli, Silke, Brockmann, Knut   +7 more
core   +1 more source

Juvenile Alexander Disease: a Case Report

Eurasian Journal of Medicine, 2012
Alexander disease is a rare autosomal recessive disorder that is characterized by degeneration of the white matter in the central nervous system. Alexander disease is a leukodystrophy that is usually observed in early childhood but rarely in adults.
Halit Ozkaya, Abdullah Baris Akcan, Gokhan Aydemir, Mustafa Kul, Secil Aydinoz, Ferhan Karademir, Selami Suleymanoglu   +6 more
doaj  

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

, 2002
Background and Objective: Alexander disease is a slowly progressive CNS disorder that most commonly occurs in children. Until recently, the diagnosis could only be established by the histologic finding of Rosenthal fibers in brain specimens. Mutations in
Messing, A., Lewis, D., Pedersen, R. C., Knowles, P., De Vivo, D., Fernandez, R., Gorospe, J. R., Puri, V., Naidu, S., Hoffman, E. P., Van der Knaap, M. S., Johnson, A. B., Jenkins, S. D., Brenner, M., Raymond, G. V.   +14 more
core   +1 more source

Alexander Disease: A Leukodystrophy That May Mimic Brain Tumor

, 2017
Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities
Ho, Cheng Ying, Hwang, Eugene I., Hwang, Eugene I, Wells, Elizabeth M., Armangue, Thais, Van Der Knaap, Marjo S., Tavasoli, Ali, Whitehead, Matthew, Packer, Roger, Bornhorst, Miriam, Ho, Cheng-Ying, van der Knaap, Marjo S, Bugiani, Marianna, Vanderver, Adeline, Rhee, Jullie, Wells, Elizabeth M   +15 more
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Adult-onset Alexander disease : Report on a family.

, 2008
Pathogenic, dominant, de novo missense mutations in the glial fibrillary acidic protein (GFAP) have been found in the three subtypes of infantile, juvenile and adult Alexander disease.Here we describe four members of an Italian family (32 to 66-yearsold,
BALBI P, UGGETTI C, CAROLI F, SERI M, FUNDAR C, SERI, MARCO, CECCHERINI I, CASALE R, SANTORO, LUCIO, Fundarò C, Santoro L.   +10 more
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Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet

, 2001
Alexander disease is a rare disorder of the central nervous system of unknown etiology. Infants with Alexander disease develop a leukoencephalopathy with macrocephaly, seizures and psychomotor retardation, leading to death usually within the first decade;
Boespflug-Tanguy, Odile, Goldman, James E., Ab, Johnson, Brenner, Michael, Messing, Albee, Rodriguez, Diana   +5 more
core   +1 more source