Mutations in 3 genes (SPG4, SPG3, and SPG31) are implicated in one half of the autosomal dominant hereditary spastic paraplegias, which are part of the larger group of hereditary spastic diplegias ...
Researchers from the University of Seville and the Seville Institute of Biomedicine (IBiS), in collaboration with the University of Cambridge, have identified a new role for one of the genes related ...
A single-case report describes a 46-year-old woman with spastic paraplegia type 7 whose FDG PET showed subtle striatal ...
Patients with spastic paraplegia type 15 develop movement disorders during adolescence that may ultimately require the use of a wheelchair. In the early stages of this rare hereditary disease the ...
Since she was born 20 years ago, Sylva Eugenie Davis of Kansas City has not been able to use her arms or legs. The nerve tracts in the neck region of her spinal cord were injured at birth, causing ...
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 ...
Hereditary spastic paraplegia (HSP), also known as familial spastic paraparesis, is a term used for a group of inherited diseases that affect the upper motor neurons traveling from the brain through ...
A gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain, scientists have found. The ...
Hereditary spastic Paraplegia (HSP) refers to a heterogeneous group of disorders characterised by slowly progressive limb spasticity and weakness. 1 Spasticity can occur in isolation (pure HSP), or ...
Boston Children's Hospital has received $8.1M in NIH funding to support and expand the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). Darius Ebrahimi-Fakhari, M.D., Ph.D., ...
A CHQPR analysis identifies 84 Texas rural hospitals at risk of closing, including 26 facing immediate risk, potentially putting emergency, maternity and inpatient services farther away. Harkla ...
Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team in Bochum and Tübingen has now solved one piece of the puzzle: The ...
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