Alexander Disease

Information and facts about Eponymous diseases.

Alexander disease is a slowly progressing fatal neurodegenerative disease.

Synonyms

Dysmyelogenic Leukodystrophy
Dysmyelogenic Leukodystrophy-Megalobare
Fibrinoid Degeneration of Astrocytes
Fibrinoid Leukodystrophy
Hyaline Panneuropathy
Leukodystrophy with Rosenthal Fibers
Megalencephaly with Hyaline Inclusion
Megalencephaly with Hyaline Panneuropathy

Clinical features

Delays in development of some physical, psychical and behavioral skills, progressive enlargement of the head (macrocephaly), seizures, spasticity, in some cases also hydrocephalus, dementia, clumsy movements.

Pathology

This genetically based condition, affecting the central nervous system (mid brain and cerebellum)is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21. It´s inherited in an autosomal dominant manner. Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath. The destruction of white matter in the brain is accompanied by the formation of fibrous, eosinophilic deposits known as Rosenthal fibers.

CT shows:

decreased density of white matter
frontal lobe predominance
+/- dilated lateral ventricles

Etiology

Unknown.

Occurrence and prevalence

Very rare, occurs mostly in males. The infantile form (80% of all cases) starts usually at the age of six months or within the first two years. The average duration of the infantile form of the illness is usually about 3 years. Onset of the juvenile form (14% of all cases) presents usually between four to ten years of age. Duration of this form is in most cases about 8 years. In younger patients, seizures, megalencephaly, developmental delay, and spasticity are usually present. Neonatal onset is also reported. Onset in adults is least frequent. In older patients, bulbar or pseudobulbar symptoms and spasticity predominate. Symptoms of the adult form may also resemble multiple sclerosis. There are no more than 300 cases reported.

Treatment

There is neither cure nor standard treatment for Alexander disease. All treatment is symptomatic and supportive, for example antibiotics for intercurrent infection and antiepileptical drugs (AED) for seizure control are usually used.

Prognosis

The prognosis is generally poor. With early onset, death usually occurs within 10 years after the onset of symptoms. Usually, the later the disease occurs, the slower it´s course is.

Back to Eponymous diseases index page

Can't find what you are looking for?
Use our site search facility...

Home I Search Site I Site map I Conditions I Symptoms I News Archive I Forum I Contact us I About us I Access Keys

All information published on this web site is for information purposes only. The content of this web site should not be used for a conclusive diagnosis or for choosing a treatment. The content on this site has been provided as a guideline and general information it is not intended to replace professional medical care. In all serious cases it is advisable to recieve attention from a qualified medical practitioner. All text is available under the terms of the GNU free documentation license.