Adrenoleukodystrophy: new approaches to a neurodegenerative disease.
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.
Moser
Hugo W
HW
Author Affliations: Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Md 21205, USA. moser@kennedykrieger.org
Raymond
Gerald V
GV
Dubey
Prachi
P
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D004338:Drug Combinations; D004883:Erucic Acids / Q000627:therapeutic use; D005227:Fatty Acids / Q000097:blood; D018380:Hematopoietic Stem Cell Transplantation; D020249:Hormone Replacement Therapy; D006801:Humans; D010641:Phenotype; D014304:Triolein / Q000627:therapeutic use
D000305:Adrenal Cortex Hormones; D004338:Drug Combinations; D004883:Erucic Acids; D005227:Fatty Acids; C079420:Lorenzo's oil; D014304:Triolein