A Sudanese neurologist working in Saudi Arabia has succeeded in giving the first clinical and physiological description of a novel form of hereditary (or familiar) spastic paraplegia.
Dr. Mustafa Abdalla M. Salih, consultant child neurologist at the College of Medicine and King Khalid University Hospital at King Saud University in Riyadh, discovered an abnormal gene that when both parents are carriers can cause this progressive disease.
This type of paraplegia is frequently seen in communities in the Gulf Region, the Middle East and North African countries due to the high prevalence of intermarriage between cousins.
The condition causes stiffness and contracture in the limbs. It usually starts in the legs and spreads to other muscles, and may lead to confinement to bed in many patients.
Salih collaborated with scientists from the Institute for Brain and Spinal Cord in Paris, France to explore the cause of this disease in two Saudi families. Following documentation of the clinical and physiological features of the disease in these families, a new gene was discovered after more than 10 years of extensive research. Defects in this gene lead to failure of the organelles responsible of providing energy to the cells of the body, called mitochondria (batteries of the cell). Following the identification of this new gene, cases from Egypt and Italy with similar clinical features were investigated and found to have the same gene abnormalities.
"The practical medical applications of this discovery are to allow the families who have an affected patient to get informed counseling by the geneticist so that they can avoid the occurrence of the disease in a future pregnancy. In our experience, we have encountered several families with more than one affected individual. Knowing the causative gene will enable international centers to find treatments in the future through gene therapy. This is currently tested on animals," said Salih.
Salih discovered in 2007, along with other scientists, the causative gene of an inherited myopathy (a muscular disease that causes the muscle fibers to not function properly, resulting in muscular weakness). He also discovered in 2010, in a collaborative research with other scientists, the gene causing a form of inherited ataxia (a neurological condition consisting of lack of voluntary coordination of muscle movements). This disease has been named after him as Salih ataxia.
Arab News
