Hereditary Spastic Paraplegia (HSP)
What is HSP?
Hereditary Spastic Paraplegias (HSPs) are a rare but highly diverse group of inherited diseases. HSPs are caused by the death of the nerve cell responsible for connecting the brain to the muscles in the limbs. This leads to progressive stiffness and weakness. They cause long-standing, severe disability in sufferers leading to significant health, social and economic impacts.
HSPs are thought to affect between 4 and 10 people in 100,000. They are currently incurable. In recent years more than 70 different HSP mutations have been identified, spastin being the most common. Consequently, significant and unprecedented improvement has been demonstrated in several different animal models and human cells from patients with HSP, using drugs targeting specifically at the pathways affected by the spastin mutation.
Despite research showing promising drug targets, as yet no drug trials designed specifically for HSP patients have been attempted. As a rare condition, with small numbers of patients reported by individual research groups, drug companies have not so far shown a willingness to invest in drugs to treat these rare but highly disabling diseases.
In order to accelerate industry and other research interest in HSPs and drug discovery we are creating the first UK HSP Registry. We are collecting data on HSP patients from different parts of the country, including an in-depth clinical and genetic description. The Registry will be one of the largest of its kind in the world and will represent a unique infrastructure providing all the prerequisites for preparing future trials, national and global collaborative initiatives for jointly establishing natural history, outcome parameters and drug treatments for specific genetic subtypes of HSP.
Our Publications on HSP
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Wiessner et al, 2021
Spastic paraplegia preceding PSEN1-related familial Alzheimer’s disease
Chelban et al, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Neuser et al, 2021
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease
Breza et al, 2021
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project
Bourinaris et al, 2020