First Name:
Holly
Last Name:
Shepherd
Major Department:
Psychology
Thesis Director:
Mark Zrull
Date of Thesis:
Dec 2010
Adrenoleukodystrophy is a progressive neurodegenerative disorder that mainly affects males. During the past 100 years, research has been conducted to discover aspects of the disease, including the cause and symptoms, and also has helped classify it as adrenoleukodystrophy. Current areas of understanding include molecular, biochemical and neurological descriptions of the disease. It is derived from a genetic defect on the X-chromosome that produces a biochemcial abnormality that affects the white matter of the brain. Fatty acids build up in the brain and cause the myelin surrounding axons to degrade, evoking behavioral, visual, and gait disturbances due to neural signals not being transmitted efficiently. There are six varying phenotypes present in males and female carriers, which can present mild symptoms or result in death in the most severe cases. Currently there is no cure for adrenoleukodystrophy, but treatment can halt the progression of the disease and enable an afflicted person to remain functional. Gene therapy, which has potential to reverse neurological symptoms, is currently the most promising treatment for patients with adrenoleukodystrophy.