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Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239Met, identified in a large Hungarian three-generation family with FD. We conclude that the p.Ile239Met GLA mutation is a pathogenic mutation for FD associated with predominant cardiac phenotype.
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Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment
We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by molecular genetics. Lupus erythematosus and any other co-morbid rheumatologic diseases were falsified retrospectively and prospectively according to international classification criteria. This case illustrates, that in addition to the deposition of lyso-gb3 secondary inflammatory mechanisms may play an important role in the pathophysiology of symptoms in Fabry’s disease.
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Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients
Although 20–30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18–55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI.
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