Alexander Disorder

Emily Rath and Matt Zinik
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Background 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 the glial fibrillary acidic protein (GFAP) gene have now been shown in a number of biopsy- or autopsy-proven patients with Alexander disease. A prospective study on patients suspected to have Alexander disease was conducted to determine the extent to which clinical and MRI criteria could accurately diagnose affected individuals, using GFAP gene sequencing as the confirmatory assay. It is a very rare disease; there are no more than 500 reported cases.
Cause
Slowly by stripping the myelin sheath (a protective sheath on the axons on your nueron the affected person would slowly begin to lose body function and eventually will not be able to talk. There is a over load of long chain fatty acids that ones body cannot dispose of. This over load of fatty acids will build up in your brain and that is what strips the Myelin Sheath.
Clinical Features
Basic:progressive enlargement of the head (macrocephaly), seizures, spasticity, and in some cases hydrocephalus, dementia.
Infantile form:present between aged 6 months to 2 years with megalencephaly and/or hydrocephalus, seizures, developmental delay, and spastic paresis. Death occurs from 2 months to 7 years after onset of symptoms. Bilateral symmetrical lesions in the white matter especially in the frontal lobe, subependymal and deep white matters. Posterior fossa structures are less affected. There is also dilatation of lateral ventricles.
Juvenile form:onset between the ages of 7 and 14 years. Seizures are less common. Brain stem features with dysphagia and psychological disturbance have been reported. There is marked dilatation of the lateral and third ventricles and white matter lesions particularly in the frontal lobe.
Adult form: variable in clinical and pathologic manifestation. Some patients may have a waxing and waning neurologic course similar to that seen in MS and others suffer from a progressive neurologic disorder. Patients show bulbar symptoms, spastic paraparesis or quadriparesis, and varying degrees of cognitive dysfunction.


Prognosis
The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6. Juvenile and adult onset forms of the disorder have a slower, more lengthy course.
Cure?
There is currently no cure, or standard procedure taken for treatment.

Sources
http://www.neurology.org/content/58/10/1494.abstract
http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm