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Updated: Jul 14, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Neurology of Fabry disease
1Department of Nephrology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Internal Medicine Journal
|June 6, 2007
Summary
Neurological complications are prevalent in Fabry disease, affecting sensation, hearing, and brain imaging, with enzyme replacement therapy showing potential benefits for pain perception.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Fabry disease presents with diverse and impactful neurological symptoms.
- These manifestations significantly affect patient morbidity and quality of life.
Purpose of the Study:
- To comprehensively document neurological manifestations in Australian Fabry disease patients.
- Utilized a multidisciplinary approach with advanced clinical tools.
Main Methods:
- Clinical neurological examination, cognitive testing (MMSE, NCSC), and Quantitative Sensory Testing (QST).
- Autonomic function (RR interval variation), brain MRI, and audiology were assessed.
- Compared pre- and post-enzyme replacement therapy (ERT) outcomes for QST and quality of life.
Main Results:
- All 22 patients (20 hemizygotes, 2 heterozygotes) exhibited neurological involvement.
- Peripheral neuropathy (thermal sensation) and hearing loss (90%) were common; cerebellar signs noted without cerebrovascular disease.
- MRI lesion prevalence increased with age; cognitive testing was largely normal, but QST pain thresholds improved post-ERT.
Conclusions:
- Neurological complications in Fabry disease are frequent, multifaceted, and potentially severe.
- The study highlights the widespread and varied neurological impact of Fabry disease.
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