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Updated: Oct 7, 2025

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Cognitive dysfunction and white matter hyperintensities in Fabry disease.

Patrick Murphy1, Fay Williams1,2, Indran Davagnanam3

  • 1Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, London, UK.

Journal of Inherited Metabolic Disease
|January 7, 2022
PubMed
Summary

Fabry disease (FD) significantly impairs executive functions and processing speed, even in mild cases. Cognitive decline correlates with white matter changes, highlighting the need for routine neuropsychological assessment in FD patients.

Keywords:
Fabry diseasecognitionneuropsychological testingwhite matter hyperintensity

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Area of Science:

  • Neurology
  • Genetics
  • Neuropsychology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder impacting multiple systems, notably cerebrovascular health.
  • Patients with FD face elevated risks of ischemic stroke and transient ischemic attacks (TIAs).
  • The cognitive impact of white matter hyperintensities (WMH) in FD remains unclear due to prior study limitations.

Purpose of the Study:

  • To investigate the neuropsychological profile of patients with Fabry disease.
  • To correlate cognitive function with the severity of white matter changes observed on MRI.
  • To determine if cognitive deficits in FD are independent of stroke history or mood disturbances.

Main Methods:

  • A case-control study involving 26 patients with mild to moderate FD and 18 matched healthy controls.
  • Comprehensive neuropsychological assessments to evaluate cognitive functions.
  • Brain MRI to quantify white matter hyperintensities (WMH) and assess disease severity.

Main Results:

  • Patients with Fabry disease exhibited significant deficits in executive functions and information processing speed compared to controls.
  • Executive function impairments were not solely attributable to slowed processing speed.
  • A significant correlation was found between cognitive decline and the volume of white matter hyperintensities in the FD cohort.

Conclusions:

  • Fabry disease causes significant cognitive compromise, particularly affecting executive functions and processing speed, independent of stroke or mood issues.
  • White matter hyperintensities are associated with cognitive impairment in FD.
  • Routine neuropsychological evaluation and rehabilitation are recommended for individuals with Fabry disease.