This paper first gives an introduction to the neurological disease hereditary spastic paraparesis (HSP), and then concentrates on the database on HSP from Ullevål Sykehus. HSP is a hereditary progressive degenerative disease, with spastic muscular function as the main symptom. However, the disease shows great variety both concerning symptoms and progression, and new understanding of the genetic foundation is increasingly available today.
The database on which this paper concentrates contains a great proportion of all the patients with HSP in Norway, and the purpose is to sum up and make the actual information visible and accessible, and then discuss the findings. The type of transmission, mutations, clinical form, age of debut, and debut symptoms will be the main focus of the paper.
The age of debut for most patients is before they are 10 years old, but varies greatly for all forms of transmission. As is also found in other populations, dominant HSP tend to more often show a simple expression, and recessive forms tend to more often be complicated, with a greater range of symptoms. Sporadic cases in the database show both forms of expression in a more even distribution. SPG4 is the most common known gene that is mutated, followed by SPG3, SPG11 and SPG31.
There is still a lot of information about the genetic foundation and environmental influence that we still do not know about today, and this will be the main area of focus in the future. Today there is no effective treatment or known prevention of HSP, and the goal for affected individuals is relief of symptoms, and technical aims for everyday life.
With increasing information about genetic mutations and causality, genetic consultation will be easier, and increasingly important for the families and individuals affected.