What is the cause of Alexander disease?
About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known. The GFAP mutations are dominant.
Is Krabbe disease recessive or dominant?
Krabbe disease is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must have a pathogenic variant to have the condition.
Is there any cure for Alexander disease?
There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor. Most children with the infantile form do not survive past the age of 6.
What is Michael syndrome?
Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism.
Which is the most common cause of Krabbe disease?
While certain gene deletions are more frequent than others, novel mutations resulting in Krabbe disease have been discovered worldwide. Most commonly, the underlying cause of the disease is a deletion of a GALC gene, which causes a deficiency in the GALC enzyme.
How does Krabbe disease affect the white matter of the brain?
It is one of several known leukodystrophies: genetic diseases that progressively destroy the white matter of the brain. In Krabbe disease, the enzyme galactocerebrosidase (GALC), which is essential for metabolizing several important compounds in the body, is deficient.
What are the mutations in the GALC gene that cause Krabbe disease?
Krabbe disease is caused by mutations in the GALC gene located on chromosome 14 (14q31), which is inherited in an autosomal recessive manner. Mutations in the GALC gene cause a deficiency of an enzyme called galactosylceramidase. In rare cases, it may be caused by a lack of active saposin A (a derivative of prosaposin).
What causes globoid cell leukodystrophy in Krabbe disease?
Krabbe Disease Pathophysiology. A deficiency of the GALC (galactocerebrosidase) enzyme leads to this rare disorder. This condition is often referred to as Globoid Cell Leukodystrophy by doctors. Globoid cells are known to store molecules known as Galactolipids. GALC deficiency causes accumulation of Galactolipids inside the brain.
Why is it called Krabbe disease?
Another name for Krabbe Disease is Globoid Cell Leukodystrophy. This name comes from a characteristic pathology of Krabbe Disease, where a specific type of cell (called the macrophage) accumulates high levels of undegraded galactolipids as a result of the lack of GALC activity.
What are the characteristics of adult Krabbe disease?
Characteristics of Krabbe disease in adults. impaired speech (dysarthria): 31%. perturbation in carrying out voluntary movements (cerebellar ataxia ): 27%. over-pronounced curvature of the foot arches (pes cavus): 27%. deep sensory signs: 23%. tongue atrophy: 15%. visual problems due to optic nerve
What is the life expectancy of someone with leukodystrophy?
Metachromatic Leukodystrophy Life Expectancy. The lifespan of MLD sufferers differ depending on what age the disease arises in an individual. According to medical practitioners, however, sufferers of this medical condition usually survive for 3-20 years.