Adrenoleukodystrophy: New approaches to a neurodegenerative disease

Hugo W. Moser, Gerald V. Raymond, Prachi Dubey

Research output: Contribution to journalArticle

108 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)3131-3134
Number of pages4
JournalJournal of the American Medical Association
Volume294
Issue number24
DOIs
StatePublished - Dec 28 2005

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Adrenoleukodystrophy
Neurodegenerative Diseases
Neonatal Screening
Addison Disease
Phenylketonurias
Genetic Counseling
Attention Deficit Disorder with Hyperactivity
Diagnostic Errors
Prenatal Diagnosis
Ethnic Groups
Multiple Sclerosis
Molecular Biology
Incidence
Research

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Moser, Hugo W. ; Raymond, Gerald V. ; Dubey, Prachi. / Adrenoleukodystrophy : New approaches to a neurodegenerative disease. In: Journal of the American Medical Association. 2005 ; Vol. 294, No. 24. pp. 3131-3134.
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Adrenoleukodystrophy : New approaches to a neurodegenerative disease. / Moser, Hugo W.; Raymond, Gerald V.; Dubey, Prachi.

In: Journal of the American Medical Association, Vol. 294, No. 24, 28.12.2005, p. 3131-3134.

Research output: Contribution to journalArticle

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