Related Experiment Video
Updated: Jun 16, 2026

Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants
Published on: November 28, 2025
Neurological manifestation of Fabry disease--a case report
Vida Demarin1, Vanja Basić Kes, Milan Bitunjac
1Department of Neurology, University Hospital 'Sestre milosrdnice", Zagreb, Croatia.
Abstract:
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme alpha-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vessels, renal epithelial cells, cardiac myocytes and numerous neuronal cells. In this report, we present 20-year-old male patient with ischemic stroke in pons. The case had previously been misdiagnosed as polimyositis and vasculitis. Angiokeratomas, neuropathic pain and ischemic stroke in young age suggested a Fabry disease. The diagnosis was confirmed biochemically and genetically. All young adults with stroke, especially if they have additional symptoms like angiokeratomas, proteinuria, neuropathic pain in toes and fingers should be tested for Fabry disease.
Related Concept Videos
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Neural Regulation
Multiple Sclerosis l: Introduction
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Lysosomal Hydrolases
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
