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Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.

Parkinsonism & related disorders - 1 Nov 2021

Hsu Shao-Lun, Chen Ying-Hao, Chou Cheng-Ta, Chou Ying-Tsen, Tsai Yu-Shuen, Hsiao Cheng-Tsung, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

BACKGROUND: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder caused by mutations in the ABCD1 gene. The clinical manifestations of ALD vary widely with some patients presenting with adrenomyeloneuropathy (AMN) that resembles the phenotype of hereditary spastic paraplegia (HSP). The aim of this study is to investigate the frequency, spectrum, and clinical features of ABCD1 mutations in Taiwanese...

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Identifiers

PMID: 34649108
DOI: 10.1016/j.parkreldis.2021.10.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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