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April 26, 2026Clinical Case Reports0 citationsOpen 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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FZFu-Qing ZhangZZZhuoran ZhangDWD Wang

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

P
Population
1 Chinese patient with X-linked adrenoleukodystrophy (X-ALD) manifesting solely as dysarthria
O
Outcome
Identification of ABCD1 mutation

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

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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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/69edabb84a46254e215b3a40https://doi.org/10.1002/ccr3.71937
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