Filtered by Category: AxD Research
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AxD RESEARCHA Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene
January 10, 2019
AbstractThe case describes a 25-year-old Caucasian female diagnosed with Alexander’s disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A full neurologic and hematologic workup yielded very little ...
Alexander Disease: A Guide for Patients and Families (Colloquium Neuroglia in Biology and Medicine: From Physiology to Disease)
November 14, 2017
This book offers a comprehensive overview of Alexander disease, a rare and devastating neurological disorder that often affects the white matter of the brain and spinal cord.Its distinctive neuropathology consists of abundant Rosenthal fibers within astrocytes (one of the four major cell types of the central nervous system). Nearly all cases are caused by variants in ...
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
May 1, 2013
AbstractBackgroundWe studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and severe motor-neuron disease (MND) in her half-brother, the ...
Alexander Disease
April 11, 2012
The past decade has witnessed a burst of speculation and data about how astrocyte dysfunction contributes to the phenotypes of the well known neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's, and amyotrophic lateral sclerosis, as well as other types of disorders such as epilepsies and multiple sclerosis (Rempe and Nedergaard, 2010). However, ...