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, 2026Clinical Case ReportsOpen Access

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

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Key result

Undefined ABCD1 mutation linked to X-linked adrenoleukodystrophy presenting atypically with isolated dysarthria.

Population

1 patient with X-ALD manifesting solely as dysarthria

Design

Case report and literature review

Authors

FZFu-Qing ZhangSecond Hospital of Tianjin Medical University ZZZhuoran ZhangTianjin Medical University General Hospital DWD WangSecond Hospital of Tianjin Medical University

Discussion

Member takes

Implication

Clinicians should consider X-ALD in isolated dysarthria; leaves open broader ABCD1 phenotypic spectrum for further study.

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.

Cite This Study

Zhang et al. (2026) studied this question. An undefined ABCD1 gene mutation was identified in a patient with X-linked adrenoleukodystrophy who presented atypically with solely dysarthria.

synapsesocial.com/papers/69edabb84a46254e215b3a40 https://doi.org/10.1002/ccr3.71937

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

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Also Consider

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