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AxD RESEARCHRare Disease Database
August 19, 2020
SummaryAlexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the ...
Genetics Home Reference: Alexander Disease
August 17, 2020
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. ...
Alexander Disease (AxD) Natural History Research
August 11, 2020
The Leukodystrophy Center at Children’s Hospital of Philadelphia currently has two ongoing research studies exploring the natural history of Alexander disease (AxD). Individuals of any age diagnosed with Alexander disease are eligible to participate. The data obtained from both of these studies will be used for the design of future clinical trials.Study #1 ...
Towards genomic database of Alexander disease to identify variations modifying disease phenotype
October 14, 2019
AbstractAlexander disease (AxD) is an extremely rare neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations. Compared with the cerebral type, which is characterized by infantile onset, the bulbospinal type and intermediate form are associated with a late onset, spanning from juveniles to the elderly, and more diverse clinical ...
Alexander Disease Information Page
March 27, 2019
Recent discoveries show that most individuals (approximately 90 percent) with Alexander disease have a mutation in the gene that makes glial fibrillary acidic protein (GFAP). GFAP is a normal component of the brain, but it is unclear how the mutations in this gene causes the disease. In most cases mutations occur spontaneously are not inherited from ...
A 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, ...