Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Spastic Paraplegia, Hereditary

MeSH tree: C16.320.400.375.820

Common genetic causes across motor neuron diseases identified

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical similarities but have been largely viewed as genetically distinct. However, an analysis led by investigators ...

Triglycerides may play an important role in brain metabolism

While glucose, or sugar, is a well-known fuel for the brain, Weill Cornell Medicine researchers have demonstrated that electrical activity in synapses—the junctions between neurons where communication occurs—can lead ...

Gene therapy protects against motor neuron disease in rats

University of Wisconsin–Madison researchers targeting a group of hereditary neurodegenerative diseases have found success using a gene therapy treatment in an animal model. The approach, which uses CRISPR-Cas9 genome editing ...

Genetic mutation linked to hereditary spastic paraplegia

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 published ...

Gaining insights into spastic paraplegia

Rare diseases, as the name indicates, only affect a small part of the population. However, for those affected they are particularly challenging, often especially because research into such rare diseases tends to be less of ...