The proband (case 1) was a 74-year-old man with hypertension. His parents were reported not to be consanguineous. His mother and father died at age 42 and 80, respectively, and they were free of ...

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 ...

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 ...

Two little girls from different parts of the globe who share an extremely rare and debilitating genetic brain disorder have been united by Queensland research aiming to find a breakthrough drug ...

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 ...