Road Closures Near 801 Broadway Parking Garage
Effective June 18, 2014 - Turn onto Ashland Ave from Broadway, to access the Kennedy Krieger parking garage. Please allow more time for travel to appointments.
Detour Route and more information.
News & Updates
Search Research Content
Resource Finder at Kennedy Krieger Institute
A free resource that provides access to information and support for individuals and families living with developmental disabilities.
Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
|Title||Adrenoleukodystrophy: new approaches to a neurodegenerative disease.|
|Publication Type||Journal Article|
|Year of Publication||2005|
|Authors||Moser HW, Raymond GV, Dubey P|
|Journal||JAMA : the journal of the American Medical Association|
|Date Published||2005 Dec 28|
X-linked adrenoleukodystrophy (X-ALD), which was first described in 1923, was viewed until 1976 as a rare and inexorably fatal neurodegenerative disorder that affected boys. The genetic defect and biochemical abnormalities have now been defined. Ongoing research has resulted in new findings: (1) there is a wide range of phenotypic expression. At least half of patients with X-ALD are adults with somewhat milder manifestations, and women who are carriers may become symptomatic. X-ALD is often misdiagnosed as attention-deficit/hyperactivity disorder in boys and as multiple sclerosis in men and women, and is not an uncommon cause of Addison disease; (2) the incidence of X-ALD, estimated to be 1:17,000 in all ethnic groups, approximates that of phenylketonuria; (3) noninvasive and presymptomatic diagnosis and prenatal diagnosis are available; family screening and genetic counseling are key to disease prevention; and (4) new therapies, applied early, show promise. Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder.