Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population

BackgroundAs a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory tests, and neuroimaging on three patients with...

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Bibliographic Details
Main Authors: Raoli He, Jian Zhang, Tianwen Huang, Guoen Cai, Zhangyu Zou, Qinyong Ye
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Neurology
Subjects:
adrenomyeloneuropathy
X-linked adrenoleukodystrophy
spastic paraparesis
ABCD1
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1126729/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1126729/full

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