Group of disorders characterised by degeneration of white matter in the brain
Medical condition
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.
^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.
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy...
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses...
Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin which protects...
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that...
or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.[citation needed] Onset usually occurs in childhood, however some adult...
Libmeldy among others, is a gene therapy treatment for metachromatic leukodystrophy developed by Orchard Therapeutics. It contains an autologous CD34⁺ cell...
aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid...
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known...
Autosomal dominant leukodystrophy with autonomic disease is a rare neurological condition of genetic origin which is characterized by gradual demyelination...
various pathologies, including neuropathologies, such as metachromatic leukodystrophy, Alzheimer's disease, and Parkinson's disease. Sulfatide is also associated...
gene. A deficiency in Arylsulfatase A is associated with metachromatic leukodystrophy, an autosomal recessive disease. Multiple sulfatase deficiency (MSD)...
CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies. It is characterized by early-onset enlargement of the head (macrocephaly)...
RVCL-S, also previously known as retinal vasculopathy with cerebral leukodystrophy, RVCL; or cerebroretinal vasculopathy, CRV; or hereditary vascular retinopathy...
gangliosidoses, including Gaucher's and Niemann–Pick diseases (E75.2-E75.3) Leukodystrophies (E76.0) Mucopolysaccharidoses, including Hunter syndrome and Hurler...
and spinal cord involvement and leg spasticity (HBSL), a rare genetic leukodystrophy. Madison Blaine McLaughlin lived in Louisiana before moving to Los Angeles...
Metachromatic Leukodystrophy". "Orchard Therapeutics Receives EC Approval for Libmeldy for the Treatment of Early-Onset Metachromatic Leukodystrophy (MLD)" (Press...
rare diseases on the differential include CNS lymphoma, congenital leukodystrophies, and anti-MOG-associated myelitis. Several phenotypes (commonly termed...
galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy". FASEB J. 21 (10): 2520–2527. doi:10.1096/fj.06-6169com. PMID 17403939...
lysosomal storage disease is inclusion cell disease. Metachromatic leukodystrophy is another lysosomal storage disease that also affects sphingolipid...
disorders that affect myelination, such as the genetically determined leukodystrophies; the acquired inflammatory demyelinating disorder, multiple sclerosis;...
Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but...
to his son, Hunter James Kelly, who was diagnosed with globoid-cell leukodystrophy (Krabbe disease) shortly after his birth on February 14, 1997, which...
Amaducci and colleagues hypothesized that Auguste Deter had metachromatic leukodystrophy, a rare condition in which accumulations of fats affect the cells that...
condition, noncancerous (benign) tumors, hamartomas, grow in the brain. Leukodystrophy: In this condition, the myelin sheath does not develop in a normal way...
includes a lymphoid infiltrate around eccrine sweat glands. Metachromatic leukodystrophy, a lysosomal storage disease, leads to the accumulation of lipopigments...
Luna Mae, was born on February 25, 2015. Matteo was diagnosed with leukodystrophy (specifically an AGS) shortly after his birth. He died at the age of...
Global Information
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.
