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 ...

Elpida Therapeutics, a non-profit biotechnology company developing gene therapies for ultra-rare diseases, and Catalent, Inc., the leader in enabling the development and supply of better treatments ...

Mike Wolanin | The Republic Kyle Alumbaugh demonstrates how he uses his wheelchair ramp participate in 5k run, walk or roll to raise awareness for Hereditary Spastic Paraplegia and Primary Lateral ...

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 ...

While it might have given our ancestors an evolutionary advantage, an "unstable" region on human chromosome 15 is also the source of a set of inherited neurological diseases. Researchers at ...

Spastic paraplegia (SP) in hereditary form is a genetically and clinically heterogeneous group of diseases with distinctive features of axonal degeneration in corticospinal tracts. Progressive ...

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 ...

Autosomal recessive ulcero-mutilating neuropathy with spastic paraplegia is a very rare disease since only few cases were described up to date. We report in this study a consanguineous Moroccan family ...

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 ...

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 ...