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Adrenoleukodystrophy presenting as spinocerebellar degeneration
T Nakazato1, T Sato, T Nakamura
1Department of Neurology, School of Medicine, Juntendo University, Tokyo, Japan.
European Neurology
|January 1, 1989
Summary
This study describes adrenoleukodystrophy (ALD) in three patients, noting late onset and spinocerebellar symptoms. Plasma sphingomyelin analysis revealed elevated very-long-chain fatty acids, a key biomarker for ALD.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the adrenal glands and nervous system.
- It is characterized by the accumulation of very-long-chain fatty acids (VLCFAs) in tissues.
- ALD typically presents in childhood, but late-onset forms exist.
Observation:
- Three patients from a single family presented with late-onset adrenoleukodystrophy, with symptom onset between ages 33 and 54.
- Early symptoms included ataxic gait and spasticity.
- Two patients also developed dementia and optic atrophy.
Findings:
- Plasma sphingomyelin analysis revealed an accumulation of very-long-chain fatty acids (C24-C26).
- Baseline plasma cortisol levels were normal, but adrenocorticotropic hormone (ACTH) levels were elevated.
- The clinical presentation in these patients was primarily spinocerebellar.
Implications:
- This case series highlights that adrenoleukodystrophy can manifest with spinocerebellar symptoms, expanding the known clinical spectrum of the disease.
- Early identification of VLCFA accumulation is crucial for diagnosis, even with atypical neurological presentations.
- Understanding these variations aids in developing targeted diagnostic and therapeutic strategies for adrenoleukodystrophy.