Hereditary CNS demyelinating disease
Encyclopedia
A Hereditary CNS demyelinating disease is a demyelinating
central nervous system disease
that is primarily due to an inherited genetic condition. (This is in contrast to autoimmune demyelinating conditions, such as multiple sclerosis
, or conditions such as central pontine myelinolysis
that are associated with acute acquired insult.)
Examples include:
Demyelinating disease
A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. This impairs the conduction of signals in the affected nerves, causing impairment in sensation, movement, cognition, or other functions depending on which nerves are involved.The term...
central nervous system disease
Central nervous system disease
A central nervous system disease can affect either the spinal cord or brain , both part of the central nervous system. The central nervous system controls behaviors in the human body, so this can be a fatal illness.-Spinal Cord:...
that is primarily due to an inherited genetic condition. (This is in contrast to autoimmune demyelinating conditions, such as multiple sclerosis
Multiple sclerosis
Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...
, or conditions such as central pontine myelinolysis
Central pontine myelinolysis
Central pontine myelinolysis is neurological disease caused by severe damage of the myelin sheath of nerve cells in the brainstem, more precisely in the area termed the pons, predominately of iatrogenic etiology...
that are associated with acute acquired insult.)
Examples include:
- Alexander diseaseAlexander diseaseAlexander 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....
- Canavan diseaseCanavan diseaseCanavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or aminoacylase 2 deficiency, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain. Canavan disease is also one of the most common degenerative...
- Krabbe diseaseKrabbe diseaseKrabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...
- leukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matterLeukoencephalopathy with vanishing white matter is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor EIF-2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5...
- megalencephalic leukoencephalopathy with subcortical cystsMegalencephalic leukoencephalopathy with subcortical cystsMegalencephalic leukoencephalopathy with subcortical cysts is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.It is associated with MLC1.-External links:...
- metachromatic leukodystrophyMetachromatic leukodystrophyMetachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...
- X-linked adrenoleukodystrophy