Alexander disease

Alexander disease
Classification and external resources
ICD-9 331.89
OMIM 203450
MeSH D038261

Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics.[1][2][3]

Contents

Clinical features

Delays in development of some physical, psychological and behavioral skills, progressive enlargement of the head (macrocephaly), seizures, spasticity, in some cases also hydrocephalus, dementia.[2]

Pathology

Alexander disease is a genetic disorder affecting the central nervous system (midbrain and cerebellum). It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21. The mutation is not carried by the parents,[2][3][4] rather the mutation occurs de novo in the parental gametes that then develop into a child with Alexander disease.[2]

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.[2][3][5] Rosenthal fibers appear not to be present in healthy people,[3][4] but occur in specific diseases, like some forms of cancer.[3][4] The Rosenthal fibers found in Alexander disease are not distributed in the same areas or as concentrated when compared to other diseases and disorders.[3]

CT shows:

Cause

The cause of Alexander disease is a mutation in the gene encoding glial fibrillary acidic protein.[2][3][4][5][6]

Diagnosis

It is possible to detect the signs of Alexander disease with Magnetic Resonance Imaging, which looks for specific changes in the brain that may be tell-tale signs for the disease.[4][7] It is even possible to detect adult-onset Alexander disease with MR imaging.[6] Alexander disease may also be revealed by genetic testing for the known cause of Alexander disease.[4] A rough diagnosis may also be made through revealing of clinical symptoms including, enlarged head size, along with radiological studies, and negative tests for other leukodystrophies.[4]

Occurrence and prevalence

Its occurrence is very rare. The infantile form (63% 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 (24% 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.[2]

There are no more than 500 reported cases.[2]

Treatment

There is currently no cure, or standard procedure taken for treatment.[2][3][4] A bone marrow transplant has been attempted on a child, but did not cause the patient's condition to improve.[4][8]

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 its course is.[2][3]

See also

External Links

References


Wikimedia Foundation. 2010.

Look at other dictionaries:

  • Alexander disease — A slowly progressive and ultimately fatal brain disorder that most commonly occurs in children. The infantile form of the disease is characterized by megalencephaly (an abnormally large head), seizures, spasticity and developmental retardation.… …   Medical dictionary

  • Alexander-Krankheit — Klassifikation nach ICD 10 E75.2 Sonstige Sphingolipidosen …   Deutsch Wikipedia

  • Disease, Alexander — A slowly progressive and ultimately fatal brain disorder that most commonly occurs in children. The infantile form of the disease is characterized by megalencephaly (an abnormally large head), seizures, spasticity and developmental retardation.… …   Medical dictionary

  • Alexander III of Russia — Alexander III Photograph by Sergey Levitsky Emperor and Autocrat of All the Russias Reign 13 March 1881 – 1 November 1894 ( 100000 …   Wikipedia

  • Alexander of Tralles — Alexander ( gr. Ἀλέξανδρος) of Tralles in Lydia (or Alexander Trallianus, c. 525 – c.605) was one of the most eminent of the ancient physicians. His date may safely be put in the 6th century, for he mentions Aëtius Amidenus, [Alexander of Tralles …   Wikipedia

  • Alexander Gordon Bearn — (born March 29, 1923) was Executive Officer of the American Philosophical Society from 1997 until his retirement in 2002. Dr. Bearn, a physician, scientist and author, was elected a member of the Society in 1972 and served as a vice president… …   Wikipedia

  • Alexander Henry Haliday — Alexander Henry Haliday, also known as Enrico Alessandro Haliday and Alexis Heinrich Haliday (1807–1870), was an Irish entomologist. He is primarily known for his work on Hymenoptera, Diptera and Thysanoptera, but Haliday worked on all insect… …   Wikipedia

  • Alexander Levitzki — (born 1940) is an Israeli biochemist who is a Professor of Biochemistry at the Hebrew University of Jerusalem. [ [http://biolchem.huji.ac.il/levitzki/levitzki.html Alexander Levitzki at the Hebrew University of Jerusalem] ] Birth and education… …   Wikipedia

  • Alexander of Abonoteichos — • The most notorious imposter of the second century of the Christian era Catholic Encyclopedia. Kevin Knight. 2006. Alexander of Abonoteichos     Alexander of Abonoteichos …   Catholic encyclopedia

  • Alexander McDonnell — (1798 1835) was an Irish chess master, who contested a series of six matches with the world’s leading player Louis Charles Mahé de La Bourdonnais in the summer of 1834.It was the first match of any importance in the history of chess and is still… …   Wikipedia


Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”

We are using cookies for the best presentation of our site. Continuing to use this site, you agree with this.