Scientists Discover New Genetic Forms of Neurodegeneration

Research conducted by an international team of scientists at the University of California, San Diego School of Medicine resulted in a significant increase of known causes for the neurodegenerative disorder, hereditary spastic paraplegia (HSP). HSP is characterized by progressive stiffness, contraction of the lower limbs, and is associated with epilepsy, cognitive impairment and blindness. The scientists analyzed about 100 patients using a technique called whole exome sequencing, which focuses on mapping key portions of the genome. They identified a genetic mutation in almost 75 percent of the cases, half of which were in genes never before linked with the disease. The researchers were also interested in understanding how HSP relates to other groups of disorders and found that HSP links to other more common neurodegenerative disorders, such as Alzheimer’s disease and amyotrophic lateral sclerosis. To read more about this study, click here.