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 ...

An international study of 726 patients links novel SPG4/SPAST mutations to a rare plaque-only form of early-onset dementia, ...

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 ...

Somatic mosaicism is increasingly recognized as a pervasive feature of the human brain and a potential contributor to neurological disease across the lifespan. Unlike ...

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 ...

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 ...

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 ...

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 ...

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 ...

MedPAC's chair defended its $76 billion Medicare Advantage estimate at an insurer event. What the fight could mean for Part B premiums. Kennedy's new disclosure lists $4 million in book advances from ...