This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (2)  • Contact me when this article is cited  Related Content  • Related article  • Similar articles in this journal  Topic Collections  • Neurogenetics  • Nutritional and Metabolic Disorders  • Metabolic Diseases  • Alert me on articles by topic  Social Bookmarking   What's this?

Arch Neurol. 2005;62:1045-1046.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Inherited neurometabolic disorders are individually rare and have many causes. Many are progressive disorders with treatment options limited to symptomatic care. X-linked adrenoleukodystrophy (ALD) is a rare disorder first described almost 100 years ago. As a result of intense basic science and clinical research, remarkable progress has been made in elucidating the biochemical irregularities, molecular genetics, diagnostic testing, and pathogenesis of this disorder. In recent years, extraordinary progress has also been made in developing effective treatments, and ALD serves as an excellent model for the treatment of neurometabolic diseases. It is a progressive disorder characterized by Addison disease, childhood dementia, and neurologic deterioration to a vegetative state. A key discovery was the identification of lipid inclusions consisting of cholesterol esters and an excess of very long-chain fatty acids (VLCFAs) in adrenal cells.¹ This finding led to the development of specific assays for diagnosis, and it localized the subcellular irregularity to . . . [Full Text of this Article]

AUTHOR INFORMATION

Raymond Ferri, MD, PhD; Phillip F. Chance, MD

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

Follow-up of 89 Asymptomatic Patients With Adrenoleukodystrophy Treated With Lorenzo’s Oil
Hugo W. Moser, Gerald V. Raymond, Shou-En Lu, Larry R. Muenz, Ann B. Moser, Jiahong Xu, Richard O. Jones, Daniel J. Loes, Elias R. Melhem, Prachi Dubey, Lena Bezman, N. Hong Brereton, and Augusto Odone
Arch Neurol. 2005;62(7):1073-1080.
ABSTRACT | FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Uptake and metabolism of plasma-derived erucic acid by rat brain
Golovko and Murphy
J. Lipid Res. 2006;47:1289-1297.
ABSTRACT | FULL TEXT