Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

Abstract:

:Adrenoleukodystrophy (ALD) is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex. It is associated with an abnormal accumulation of saturated very long chain fatty acids and can be diagnosed by demonstrating an excess of these substances in plasma or red cells. Our laboratory has identified more than 900 hemizygotes and 1,000 heterozygotes. Approximately 50% of the hemizygotes have a rapidly progressive childhood or adolescent form of the disease. Twenty-five percent of males have a slowly progressive paraparesis in adulthood, but often are not diagnosed correctly. The illness may also present as Addison disease without apparent neurological involvement. Approximately 15% of heterozygotes develop moderately severe spastic paraparesis. It is important to diagnose ALD promptly because of the urgent need for genetic counseling and the availability of promising therapeutic interventions.

journal_name

Dev Neurosci

authors

Moser HW,Moser AB,Naidu S,Bergin A

doi

10.1159/000112170

subject

Has Abstract

pub_date

1991-01-01 00:00:00

pages

254-61

issue

4-5

eissn

0378-5866

issn

1421-9859

journal_volume

13

pub_type

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