Autonomic dysfunction in a patient with X-linked adrenoleukodystrophy

作者：Zhang, Yifan; Guo, Dongmei; Tang, Yi^*

来源：International Journal of Neuroscience, 2018, 128(8): 783-784.

DOI：10.1080/00207454.2017.1405953

• X-linked adrenoleukodystrophy
• autonomic dysfunction
• mitochondrial defect

X-linked adrenoleukodystrophy is an inherited disease caused by abnormal accumulation of very long chain fatty acids. The diagnosis of X-linked adrenoleukodystrophy can be confirmed with the mutation of ABCD1 gene. The main symptom of the X-linked adrenoleukodystrophy is spastic paraparesis, and autonomic dysfunction is rare in X-linked adrenoleukodystrophy. Here, we presented an X-ALD case of a 46-year-old Asian male with severe autonomic dysfunction. Impairment of the autonomic nervous system may closely relate to mitochondrial defect.

• 出版日期2018
• 单位首都医科大学