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Clinical Manifestations.

Murat Gultekin1

  • 1Erciyes University School Of Medicine, Department of Neurology, Kayseri, Turkey.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 25, 2025
PubMed
Summary
This summary is machine-generated.

X-linked Adrenoleukodystrophy (X-ALD) can present in adults with cognitive decline and neurological issues. Genetic analysis confirmed the ABCD1 gene mutation, highlighting the importance of recognizing adult-onset X-ALD.

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • X-linked Adrenoleukodystrophy (X-ALD) is a common peroxisomal disorder affecting males, caused by ABCD1 gene mutations.
  • While typically presenting in childhood, X-ALD can manifest later in life with cognitive and behavioral symptoms.

Purpose of the Study:

  • To report a case of late-onset X-linked Adrenoleukodystrophy in a 47-year-old male.
  • To highlight the diverse clinical presentations of adult-onset X-ALD.

Main Methods:

  • Genetic analysis identified a homozygous mutation in the ABCD1 gene (c.761C>T and p.T254M).
  • Clinical and neurological examinations, including brain MRI, were performed.

Main Results:

  • The patient experienced a 12-year history of cognitive decline, gait disturbance, vision impairment, and spasticity.
  • Brain MRI revealed widespread white matter changes and global cortical atrophy.
  • Endocrine tests showed no significant abnormalities.

Conclusions:

  • X-linked Adrenoleukodystrophy can present rarely in adults with progressive white matter disease.
  • Adult-onset X-ALD may manifest with varied clinical symptoms, including dementia.