Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.

ABSTRACT:

Background

X-linked adrenoleukodystrophy (ALD) is one of the most common peroxisomal disorders characterized by abnormal accumulation of very long-chain fatty acids (VLCFA) in plasma and tissues and caused by mutations within ABCD1. Clinically, ALD present with various phenotypes, ranging from asymptomatic type to rapidly progressive childhood cerebral form. However, no remarkable abnormality in cerebral white matter usually makes it difficult to distinguish adult ALD from hereditary spastic paraplegia (HSP).

Methods

We analyzed the features of seven Chinese ALD patients who had a primary phenotype of spastic paraplegia. Sequencing was performed in the probands and their familial members. Detailed clinical, VLCFAs test, hormone test, magnetic resonance imaging, and electromy

SUBMITTER: Luo WJ 

PROVIDER: S-EPMC6978395 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature