Publications by authors named "Vincenza Pinto"
Article Synopsis
- Fabry disease (FD) is a rare genetic disorder linked to strokes, and there's ongoing debate about when to test for it in stroke patients.
- This study, part of the Fabry-Stroke Italian Registry, screened nearly 1,906 stroke patients for FD by checking alpha-galactosidase A activity and conducting genetic tests, identifying a small number of affected individuals.
- The findings suggest that limiting FD screening only to cryptogenic strokes could miss a significant number of cases, highlighting the importance of recognizing clinical signs that may indicate the need for testing.
We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the gene (p.Arg5371*). This contrasts the initial views on SYNE1-related ataxia as a relatively benign, slowly progressive condition, with important implications for clinic-genetic counselling.
View Article and Find Full Text PDFBackground: Heart failure (HF) is the second most important cardiac risk factor for stroke after atrial fibrillation (AF). Few data are available on mechanical thrombectomy (MT) in acute ischemic stroke (AIS) patients with HF.
Methods: The source of data is the multicentre Italian Registry of Endovascular Treatment in Acute Stroke (IRETAS).
Background: TIA and stroke, both ischemic and hemorrhagic, may complicate Fabry disease at young-adult age and be the first manifestation that comes to the clinician's attention. No definite indications have yet been elaborated to guide neurologists in Fabry disease diagnostics. In current practice, it is usually sought in case of cryptogenic strokes (while Fabry-related strokes can also occur by classical pathogenic mechanisms) or through screening programs in young cerebrovascular populations.
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