Addison's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Addison's Disease, including details on chronic adrenal insufficiency, treatment, causes, medication. | ||||||||
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Adrenoleukodystrophy: new approaches to a neurodegenerative disease.Moser HW, Raymond GV, Dubey P Author Affliations: Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Md 21205, USA. moser@kennedykrieger.org 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. Published 28 December 2005 in JAMA, 294(24): 3131-4.
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