Back حثل المادة البيضاء Arabic Leucodistròfia Catalan Leukodystrophie German Λευκοδυστροφία Greek Leucodistrofia Spanish لکودیستروفی Persian Leukodystrofiat Finnish Leucodystrophie French Leucodistrofia Galician Leucodistrofia Italian
| Leukodystrophy | |
|---|---|
 | |
| T2 weighted axial scan of a human brain at the level of the caudate heads demonstrates marked loss of posterior white matter, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy. | |
| Specialty | Neurology  |
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain.[1] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers.[2] Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. While all leukodystrophies are the result of genetic mutations,[3] other demyelinating disorders have an autoimmune, infectious, or metabolic etiology.[4]
When damage occurs to white matter, subsequent immune responses can lead to inflammation in the central nervous system (CNS), along with the loss of myelin. The degeneration of white matter can be seen in an MRI scan and is used to diagnose leukodystrophy. Leukodystrophy is characterized by specific symptoms, including decreased motor function, muscle rigidity, and eventual degeneration of sight and hearing. While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset. Treatment options are limited, although hematopoietic stem cell transplantations using bone marrow or cord blood seem to help in certain leukodystrophy types, while further research is being done.
The combined incidence of the leukodystrophies is estimated at 1 in 7,600.[5] The majority of types involve the inheritance of an X-linked recessive, or X-linked dominant trait, while others, although involving a defective gene, are the result of spontaneous mutation rather than genetic inheritance.
- ^ Sachdev, Perminder S.; Keshavan, Matcheri S. (2010-03-15). Secondary Schizophrenia. Cambridge University Press. pp. 241–. ISBN 978-0-521-85697-3. Retrieved 15 August 2011.
- ^
One or more of the preceding sentences incorporates text from this source, which is in the public domain: "Leukodystrophy Information Page". National Institute of Neurological Disorders and Stroke. 25 May 2017. Retrieved 18 March 2018.
- ^ "Leukodystrophy". www.ninds.nih.gov. Retrieved 2024-04-13.
- ^ Coggan, Jay S.; Bittner, Stefan; Stiefel, Klaus M.; Meuth, Sven G.; Prescott, Steven A. (September 2015). "Physiological Dynamics in Demyelinating Diseases: Unraveling Complex Relationships through Computer Modeling". International Journal of Molecular Sciences. 16 (9): 21215–21236. doi:10.3390/ijms160921215. ISSN 1422-0067. PMC 4613250. PMID 26370960.
- ^ Bonkowsky, Joshua (Aug 24, 2010). "The burden of inherited leukodystrophies in children". Neurology. 75 (8): 718–725. doi:10.1212/WNL.0b013e3181eee46b. PMC 2931652. PMID 20660364.
