Neurogenetics hereditary spastic paraparesis – neurofibromatosis

Our neurogenetics team carry out molecular genetic testing to help diagnose neurogenetic conditions, as well as offering follow up care once a diagnosis has been confirmed.
Staff profile block: 

Dr Anke Hensiek

Consultant Neurologist
Dr Anke Hensiek

In particular, Dr Anke Hensiek and Dr Evan Reid specialise in treating patients with hereditary spastic paraplegia (HSP) and neurofibromatosis.

HSP is the name of a group of inherited disorders which cause weakness and stiffness of the leg muscles. It is usually caused by an abnormal gene which leads to the deterioration of the long nerves in the spine, which control voluntary movement. As a result, the muscles in the lower body do not receive the correct messages, in turn causing symptoms which gradually get worse.

The symptoms of HSP are limited to the legs, and rarely affect the upper body. They can include difficulty with walking, uncontrollable shaking, poor balance and unsteadiness. Some people also develop bladder problems and fatigue.

Although the disorder cannot be cured, we can relieve some of its symptoms by using muscle relaxants and regular physiotherapy to maintain as much muscle strength and range of movement as possible. In some cases, patients may also need surgery to release tendons or shortened muscles. If you have HSP, you will come to Addenbrooke’s for regular appointments, where you will be carefully monitored and appropriate therapies prescribed to help you maintain your independence.

We also assess and treat patients with neurofibromatosis (NF1), which is a genetic condition which affects around one in every 3,000 babies and causes tumours to grow along the nerves. Although the majority of these tumours are non-cancerous, around 10% of people with NF1 will develop a type of cancer known as malignant peripheral nerve sheath tumours as a result of their condition. Other complications caused by the disorder include high blood pressure, learning difficulties and behavioural problems and scoliosis, or curvature of the spine.

Because of the potential for complications, patients with HSP are monitored closely by our neurologists and specialist nurses so that any further problems which develop can be picked up and treated quickly. This could include surgery to remove tumours and correct bone abnormalities, or medication for secondary conditions such as high blood pressure. Wherever necessary, our team will also refer patients with behavioural problems for therapy to help them to cope more effectively with everyday life.