Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype
Background: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCA...
Verfasser: | |
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FB/Einrichtung: | FB 13: Biologie
FB 05: Medizinische Fakultät |
Dokumenttypen: | Artikel |
Medientypen: | Text |
Erscheinungsdatum: | 2014 |
Publikation in MIAMI: | 08.01.2015 |
Datum der letzten Änderung: | 06.10.2023 |
Angaben zur Ausgabe: | [Electronic ed.] |
Quelle: | Orphanet Journal of Rare Diseases 9 (2014) 178, 1-13 |
Schlagwörter: | Neuropathic pain; Stroke; Cerebrovascular disease; Fabry disease; Gene expression regulation |
Fachgebiet (DDC): | 610: Medizin und Gesundheit |
Lizenz: | CC BY 4.0 |
Sprache: | English |
Anmerkungen: | Finanziert durch den Open-Access-Publikationsfonds 2014/2015 der Deutschen Forschungsgemeinschaft (DFG) und der Westfälischen Wilhelms-Universität Münster (WWU Münster). |
Format: | PDF-Dokument |
ISSN: | 1750-1172 |
URN: | urn:nbn:de:hbz:6-00399363714 |
Weitere Identifikatoren: | DOI: doi:10.1186/s13023-014-0178-5 |
Permalink: | https://nbn-resolving.de/urn:nbn:de:hbz:6-00399363714 |
Onlinezugriff: | s13023-014-0178-5.pdf |
Background: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations. Methods and results: Patients were retrospectively analyzed for stroke, transient ischemic attack (TIA), white matter lesions (WML) and SFN with neuropathic pain. Functional impact of the haplotype was determined by molecular genetic methods including real-time PCR, exon trapping, promoter deletion constructs and electrophoretic mobility shift assays. Symptomatic -10T allele carriers suffered from stroke, TIA, WML, and SFN with neuropathic pain. Patients’ mean GLA mRNA expression level was reduced to ~70% (p