What question did this study set out to answer?

To present a unique case of X-ALD with atypical manifestations linked to an undefined ABCD1 mutation.

April 26, 2026Open Access

A Chinese X‐Linked Adrenoleukodystrophy Patient With Atypical Clinical Symptoms Contained an Undefined ABCD1 Mutation—A Case Report and Literature Review

Key Result

An undefined ABCD1 gene mutation was identified in a patient with X-linked adrenoleukodystrophy who presented atypically with solely dysarthria.

Key Points

To present a unique case of X-ALD with atypical manifestations linked to an undefined ABCD1 mutation.
Case report of a patient with dysarthria symptoms
Identification of an undefined mutation in the ABCD1 gene
The patient exhibited only dysarthria as a clinical symptom of X-ALD
The mutation in ABCD1 was undefined, suggesting variability in clinical presentations of X-ALD

Structured PICO

Population

1 Chinese patient with X-linked adrenoleukodystrophy (X-ALD) manifesting solely as dysarthria

Outcome

Identification of ABCD1 mutation

Highlights the necessity of considering X-linked adrenoleukodystrophy in patients presenting with atypical clinical symptoms such as isolated dysarthria.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD diagnosis.

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