Novel alpha-galactosidase A mutation in a female with recurrent strokes.

Anderson-Fabry disease (AFD) is an X-linked inborn error of glycosphingolipid catabolism resulting from the deficient activity of the lysosomal exoglycohydrolase, a-galactosidase A. The complete genomic and cDNA sequences of the human alpha-galactosidase A gene have been determined and to date, several disease-causing alpha-galactosidase A mutations have been identified, including missense mutations, small deletions/insertions, splice mutations, and large gene rearrangements We report a case of a 56-year-old woman with recurrent cryptogenic strokes. Ophthalmological examination revealed whorled opacities of the cornea (cornea verticillata) and dilated tortuous conjunctival vessels. She did not show other typical signs of Fabry disease such as acroparesthesias and angiokeratoma. The patient's alpha-galactosidase A activity was 4.13 nmol/mL/h in whole blood. Alpha-galactosidase A gene sequence analysis revealed a heterozygous single nucleotide point mutation at nucleotide c.550T>A in exon 4 in this woman, leading to the p.Tyr184Asn amino acid substitution.

Immune-inflammatory markers and arterial stiffness indexes in subjects with acute ischemic stroke.

UNLABELLED: No study has yet evaluated the relationship between arterial stiffness indexes and immuno-inflammatory pathway in patients with an acute cardiovascular or cerebrovascular event. The aim of our study was to evaluate in patients with acute ischemic stroke the relationship between immune-inflammatory markers and arterial stiffness indexes. METHODS: 107 subjects with acute ischemic stroke and 107 controls without stroke. We evaluated plasma levels of C-reactive protein (CRP), interleukin-1beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6) and interleukin-10 (IL-10), E-selectin, P-selectin, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), von Willebrand Factor (vWF), tissue plasminogen activator (TPA), plasminogen activator inhibitor-1 (PAI-1). Carotid-femoral pulse wave velocity (PWV) and augmentation index (Aix) were evaluated. RESULTS: There was a significant positive relationship, corrected for age, and gender, between PWV and CRP, TNF-α, IL1ß, VWF and IL-6. Aix was significantly related to VWF, IL-6 and TNF-α levels. Among Lacunar subtype PWV was significantly related to CRP, IL-1ß, IL-6, TNF-α and vWF. In LAAS subjects PWV was significantly related to CRP, IL-1ß, IL-6, TNF-α but not with vWF. Among CEI subtype, PWV was significantly and positively related to CRP, IL-1ß, TNF-α and vWF. DISCUSSION: Our findings show that both aortic stiffness and wave reflection are related to the degree of systemic inflammation in stroke subjects, suggesting that circulating inflammation mediators can influence the stiffness of vessels distant to those involved in the disease process itself.