Adrenoleucodystrophy and BSERA
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- 作者：Serafini ; G. ; Laureti ; S. ; Santeusanio ; F. ; Simoncelli ; C. ; Casucci ; G.
- 刊名：Electroencephalography and Clinical Neurophysiology
- 出版年：1995
- 出版时间：September, 1995
- 年：1995
- 卷：95
- 期：3
- 页码：45P
- 全文大小：126 K
文摘
X-linked adrenoleucodystrophy (X-linked ALD), an abnormality in peroxisomal beta-oxidation, is a rare hereditary disease causing neurological disturbances, demyelination, endocrinal imbalance and cortico-adrenal dysfunction. Myelin sheath metabolism, cerebral and peripheral nerve conduction are disturbed. This study used BSERA to assess electrophysiological damage in 14 patients and correlated the results with plasma very long chain fatty acid (VLCFA) levels and clinical findings. Interpeak I-V latency times were used to divide the BSERA responses into 4 groups. Abnormal plasma VLGFA levels, clinical findings and abnormal BSERA patterns overlapped in 4 patients who had already been diagnosed as affected by X-linked ALD. The BSERA response in 1 patient with Addison's disease suggested the Addison-only form of X-linked ALD. This diagnosis was confirmed by other tests. Slight abnormalities in BSERA tracing were observed in 3 patients with no evidence of plasma mutation. They will be monitored over time to see whether or not they develop X-linked ALD.