Alexander’s Disease was first described in 1949, by a prominent doctor from New Zealand by the name of William Stuart Alexander (2). When it is inherited, Alexander’s Disease is an autosomal dominant disorder, however many times it is due to a missense mutation, most of which affect exons 1, 4 and 6 (5). Alexander’s Disease, also known as ALX, AxD, demyelinogenic leukodystrophy, leukodystrophy with Rosenthal fibers and various others, is in a category of diseases known as the leukodystrophies (4, 6).
“Leukodystrophy” comes from the Greek roots leuko which means white, trophy, which means growth, and dys, which means ill (7). Patients who suffer from a leukodystrophy suffer from the demyelization of the axons in their brain (3). Myelin is a fatty substance that insulates the axons and helps the brain to send signals faster, it is found in the “white matter” portion of the brain (1, 7). People with diseases such as Alexander’s Disease and other leukodystrophies commonly lose most motor skills and are more or less dependent on others to keep them living.
Since its first description in 1949, there have been no more than 500 cases of Alexander’s Disease reported (1). Almost all of the patients who suffer from Alexander’s Disease are males (9). It is found that persons with Alexander’s Disease have a mutation of chromosome 17 which codes for the protein GFAP (4, 5). GFAP is glial fibrallary acidic protein (5). The mutation of the gene that codes for GFAP is thought to disturb the normal formation of regular intermediate filaments; this disturbance may cause a buildup of what is known as Rosenthal fibers which impede the duties of astrocytes, or astroglial cells (3, 4).
It is not sure among the medical community, the purpose of these astroglial cells in conjunction with the myelin sheathes, but it is thought that they assist in the creation and maintenance of it and the presence of the Rosenthal fibers simply blocks or interrupts their maintenance (4, 8). Common symptoms associated with myelin degeneration in Alexander’s Disease and other leukodystophies are: an enlarged head size, failure to gain weight, delays in the development of mental, physical and behavioral skills, muscle stiffness as the disease progresses, and general neurological deterioration (1, 2, 3, 4, 6).
There are three different types of Alexander’s Disease, infantile, juvenile, and adult (2). The infantile form is the most common claiming 63% of cases of Alexander’s Disease (5). In the infantile case, the disorder is diagnosed within the first two years of life and the child rarely makes it past ten years of age (6). A positive diagnosis for infantile Alexander’s Disease finds the brain abnormally large (macroencephaly), occasionally with water on it (hydroencephaly), seizures, spasticity, and psychomotor retardation (2, 5, 6).
The juvenile form takes up about 24% of all reported cases and is onset at around the ages of four and ten (5). Common symptoms are inability to talk, loss of general coordination, seizures, breathing problems, eventual paralysis, spasticity, and sometimes loss of mental function (2, 5, 6). Most individuals diagnosed with the juvenile form of Alexander’s Disease live between the ages of their early teens to the late thirties (5). The adult form of Alexander’s Disease makes up the last 13% and is the rarest with the mildest symptoms (6). It onset can appear anytime during adulthood and its progression is variable (5).
The symptoms are similar to the juvenile form, the only difference being that the progress of the disease is slower and sometimes the disease is only found after the death of the patient during an autopsy (5, 6). As is stands now, there is no cure for Alexander’s Disease (1). The only treatment offered is symptomatic, meaning, the treatment depends on the symptoms (6). The symptoms are treated individually as they come, normally antiepileptic drugs are taken to reduce and control seizures, but mental disabilities and other symptoms are taken care of as they are presented (5).
Alexander’s Disease is a debilitating disease and interaction between an afflicted individual and other people becomes more and more limited as the disease progresses. There are currently 34 disorders classified as leukodystrophies (7). Sufferers of these 34, along with another disease called Multiple Sclorosis or MS, are all looking to one thing to help cure them: Myelin Regeneration. The tree of flags above is the symbol of multiple countries of the globe; working together to find a way to rebuild myelin and make sure that it does not degenerate (10).
This is the symbol of The Myelin Project (a). The Myelin Project is based in Washington D. C. , but scientists all over the world are working to achieve this remarkable feat. The project was started by Agusto and Michaela Odone, the parents of a boy with adrenoleukodystrophy (ALD). Their extensive involvement in helping to find a cure for their son, Lorenzo created a treatment for other boys with ALD and their hope is that the Myelin Project will do the same.
BIBLIOGRAPHY Works Cited: (1)”Alexander Disease. ” Children’s Health. 27 Apr. 2007. WebMD. 8 Oct.2007. (2) Izquierdo, M. , and Avellaneda, A. “Alexander, Enfermedad De. ” Instituto DeInvestigacion De Enfermedades Raras. Feb. 2004. Asociacion Espanola ContraLeucadistrofia (ALE). 9 Oct. 2007. (3) Rowle, Y. “Alexander Disease. ” The Waisman Center. 19 Dec. 06. University ofWisconsin. 18 Oct. 2007. (4) Alexander Disease. ” Genetics Home.
Reference. 12 Oct. 2007. U. S. National Libraryof Medicine. 18 Oct. 2007 . (5) Goropse, J R. “Alexander Disease. ” Gene Review. 9 Mar. 2007. University ofWashington. 18 Oct. 2007 . (6) “Alexander Disease. ” ULF. 2 Aug. 2007.United Leukodystrophy Foundation.
18Oct. 2007 . (7) “What is Leukodystrophy?. ” ULF. 2 Aug. 2007. United Leukodystrophy Foundation. 18 Oct. 2007 . (8) Wippold, F J. , A Perry, and J Lennerz. “Neuropathology for the Neuroradiologist:Rosenthal Fibers. ” American Journal of Neuroradiology 27 (2006): 958-961. 20Oct. 2007 . (9) “Alexander Disease. ” Healthlink. 1999. University of Wisconsin. 21 Oct. 2007. (10) The Myelin Project: an Overview. ” The Myelin Project. 2007. The Myelin Project. 21 Oct. 2007 . Pictures Cited: (a) http://www. myelin. org/overview. htm.