Campaign focuses on hereditary spastic paraplegia

Apr 7 2008

A campaign to raise awareness of Hereditary Spastic Paraplegia (HSP) and announce a world first test for the little known genetic neurological disorder will be launched today by researchers at Sydney University's ANZAC Research Institute.

Hereditary Spastic Paraplegia (HSP) refers to a group of 'difficult to diagnose' inherited disorders characterised by progressive weakness, spasticity and stiffness of the legs.

Until recently, diagnosis has been primarily by neurological examination and testing, however cheap and effective gene testing and screening for HSP is now available in Australia thanks to the work of the ANZAC Institute.

This debilitating disease, which is characterised by onset in the prime of life, can be accompanied by other neurological symptoms often creating a huge burden of care on the sufferers' friends and families.

Being rare, it is a low profile disease globally, largely unknown in the general population, and receiving little medical research attention. The number of people with HSP in Australia is conservatively estimated at 800 (.004 per cent), however the new test will potentially benefit people with HSP worldwide.

'Until now tests available for the disorder have been both expensive and not 100 per cent reliable, however cutting-edge research undertaken at the ANZAC Research Institute has led to a new test which will cover all mutations of the three main genes that are known to cause HSP,' said Professor Garth Nicholson from Sydney University's ANZAC Research Institute, based at Concord Hospital.

'An important element of our ongoing campaign to find a cure for HSP is to raise awareness of the new HSP test within Australia. Accurate diagnosis is important both for increasing our understanding of HSP and for reducing the incidence of inter-generational transmission of the disorder,' said Robin Bligh, President of the HSP Research Foundation.