Leukodystrophies are inherited disorders that are characterized by a progressive breakdown (demyelination or hypomyelination) of the white matter in the central nervous system, caused by different mechanisms involving myelin proteins, as well as lipid and organic acid metabolism. They have to be distinguished from the “umbrella” term leukoencephalopathy, which is used to delineate any disease of the white matter.
A genetic mutation in the SPTSSA gene is identified as the cause of Hereditary Spastic Paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study, "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia," published in Brain on on Jan. 30.
Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood -- a readily available source of stem cells -- safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.
Across the globe, approximately 50 million people are living with dementia. The two most common forms are Alzheimer's disease and frontotemporal lobar degeneration (FTLD), which develop when neurons in specific parts of the brain stop functioning - triggering memory loss and other behavioral or personality changes.
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