التفاصيل البيبلوغرافية
| العنوان: |
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant. |
| المؤلفون: |
Lenders, Malte, Weidemann, Frank, Kurschat, Christine, Canaan-Kühl, Sima, Duning, Thomas, Stypmann, Jörg, Schmitz, Boris, Reiermann, Stefanie, Krämer, Johannes, Blaschke, Daniela, Wanner, Christoph, Brand, Stefan-Martin, Brand, Eva |
| المصدر: |
Orphanet Journal of Rare Diseases; 5/4/2016, Vol. 11, p1-9, 9p |
| مصطلحات موضوعية: |
ALPHA-galactosidase, THERAPEUTICS, ANGIOKERATOMA corporis diffusum, PHENOTYPES, TRANSIENT ischemic attack, MULTIPLE system atrophy, COMPARATIVE studies, GLYCOSIDASES, RESEARCH methodology, MEDICAL cooperation, GENETIC mutation, RESEARCH, STROKE, EVALUATION research, RETROSPECTIVE studies, GENOTYPES |
| مستخلص: |
Background: Fabry disease (FD) is an X-linked multisystemic disorder with a heterogeneous phenotype. Especially atypical or late-onset type 2 phenotypes present a therapeutical dilemma.Methods: To determine the clinical impact of the alpha-Galactosidase A (GLA) p.A143T/ c.427G > A variation, we retrospectively analyzed 25 p.A143T patients in comparison to 58 FD patients with other missense mutations.Results: p.A143T patients suffering from stroke/ transient ischemic attacks had slightly decreased residual GLA activities, and/or increased lyso-Gb3 levels, suspecting FD. However, most male p.A143T patients presented with significant residual GLA activity (~50 % of reference), which was associated with normal lyso-Gb3 levels. Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations. Two tested female p.A143T patients with stroke/TIA did not show skewed X chromosome inactivation. No accumulation of neurologic events in family members of p.A143T patients with stroke/transient ischemic attacks was observed.Conclusions: We conclude that GLA p.A143T seems to be most likely a neutral variant or a possible modifier instead of a disease-causing mutation. Therefore, we suggest that p.A143T patients with stroke/transient ischemic attacks of unknown etiology should be further evaluated, since the diagnosis of FD is not probable and subsequent ERT or chaperone treatment should not be an unreflected option. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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