A Comparison of Central Nervous System Involvement in Patients with Classical Fabry Disease or the Later-onset Subtype with the IVS4+919G>A Mutation

Overview

Journal BMC Neurol

Publisher Biomed Central

Specialty Neurology

Date 2017 Feb 8

PMID 28166746

Citations 9

Authors

Han-Jui Lee

Ting-Rong Hsu

Sheng-Che Hung

Wen-Chung Yu

Tzu-Hung Chu

Chia-Feng Yang

Svetlana Bizjajeva

Chui-Mei Tiu

Dau-Ming Niu

Affiliations

Soon will be listed here.

Abstract

Background: Patients with the later-onset IVS4+919G>A (IVS4) Fabry mutation are known to have positive central nervous system involvement compared with age- and sex-matched controls. This study compares central nervous system manifestations in patients with the IVS4 mutation or classical Fabry mutations.

Methods: This was a retrospective analysis of magnetic resonance imaging (MRI) data from Taiwanese patients enrolled in the Fabry Outcome Survey (sponsored by Shire; data extracted March 2015).

Results: Twenty-five IVS4 (19 males) and 12 (four males) classical Fabry patients underwent MRI at a median (range) age of 60.7 (45.0-70.4) and 43.0 (18.0-61.4) years, respectively. All patients received agalsidase alfa enzyme replacement therapy; two (16.7%) classical Fabry patients underwent MRI before treatment start. The pulvinar sign occurred in eight (32.0%; seven males) IVS4 and six (50.0%; three males) classical Fabry patients. Infarction occurred in eight (32.0%) IVS4 and four (33.3%) classical Fabry patients. Fazekas scores of 0, 1, 2, and 3 were found for 15 (60.0%), seven (28.0%), two (8.0%), and one (4.0%) of the IVS4 patients and for six (50.0%), four (33.3%), two (16.7%), and 0 classical Fabry patients, respectively. Abnormal height bifurcation of the basilar artery was observed in 40.0% of IVS4 and 58.3% of classical Fabry patients; abnormal laterality was observed in 4.0% of IVS4 and 16.7% of classical Fabry patients. Median (range) basilar artery diameter was 2.7 (1.4-4.0) mm in IVS4 and 3.2 (2.3-4.7) mm in classical Fabry patients (P = 0.0293); vascular stenosis was noted in 8.3% of IVS4 patients but in no classical Fabry patients.

Conclusions: A similar range of MRI findings was found for both IVS4 and classical Fabry patients. Notably, basilar artery diameter was larger in classical Fabry patients than IVS4 patients.

Citing Articles

Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.

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Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients.

Lam Y, Sheng B, Kwok H, Yu E, Ma K Orphanet J Rare Dis. 2023; 18(1):186.

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Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.

Cianci V, Pascarella A, Manzo L, Gasparini S, Marsico O, Mammi A Metab Brain Dis. 2023; 38(6):1905-1912.

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Pulvinar Sign, Stroke and Their Relationship with Fabry Disease: A Systematic Review and Metanalysis.

Ortiz J, Solis M, Ali S, Khurana M, Moncayo J, Kothari N Neurol Int. 2022; 14(2):497-505.

PMID: 35736622 PMC: 9229505. DOI: 10.3390/neurolint14020041.

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry.

Beck M, Ramaswami U, Hernberg-Stahl E, Hughes D, Kampmann C, Mehta A Orphanet J Rare Dis. 2022; 17(1):238.

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