Fabry’s disease: Neurological disorders

Damulin, I V

doi:10.17116/terarkh2016888111-114

Cited by 1 publication

(1 citation statement)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In FD, due to vascular and metabolic disorders, patients can have epileptic seizures [40]. However, the detailed characterization, prevalence rate, and severity of clinical manifestations have not been described in any study.…”

Section: Epilepsymentioning

confidence: 99%

Neurological Manifestations of Fabry Disease: Literature Review

Григолашвили

Kim

Muratbekova

et al. 2022

Open Access Maced J Med Sci

View full text Add to dashboard Cite

BACKGROUND: Fabry disease (FD) or Anderson FD is a hereditary disease belonging to the group of lysosomal storage diseases caused by decreased or absent activity of the enzyme α-galactosidase A. Enzyme deficiency leads to accumulation of glycospholipids in the lysosomes of cells of various organs, including the heart, kidneys, nervous system, and vascular endothelium. The complexity of the diagnosis of FD is due to the variety of its symptoms, the simultaneous involvement of many organs and systems. At present, possible pathogenetic treatment of the disease is enzyme replacement therapy, but its effectiveness is reduced in the later stages of the disease, when there are irreversible abnormal changes in vital organs and systems. In this regard, an urgent task is the early diagnosis of FD. AIM: Determination of neurological manifestations of FD as well as clinical criteria for screening for FD. MATERIALS AND METHODS: We analyzed cohort studies, randomized controlled trials, systematic reviews and meta-analyses, case-control studies, and case series from scientific medical databases: PubMed, Web of Science, Google Scholar in Russian, and English languages. CONCLUSION: The authors found that lesions of the nervous system in FD are detected in more than 80% of patients and can manifest as isolated or combined lesions of both the central and peripheral and autonomic nervous systems.

show abstract

Section: Epilepsymentioning

confidence: 99%