Publications by authors named "Ana C Vela"

Low-grade B cell non-Hodgkin lymphomas typically arise from the marginal zone of the secondary lymphatic follicles. Their intracranial expression is very rare, most frequently affecting the dura mater and the choroid plexus glomi in the lateral ventricles. Their initial evaluation requires the exclusion of more common extra-axial lesions, such as meningiomas, dural metastasis, granulomatous lesions or secondary lymphoproliferative dural extension from body lymphomas.

View Article and Find Full Text PDF

The aim of the study was to enhance our understanding of the pathogenesis of the ataxia of Charlevoix-Saguenay, based on the findings presented herein. Five patients with a molecular diagnosis of this disease underwent clinical, radiological, ophthalmologic and electrophysiological examinations. Five novel mutations, which included nonsense and missense variants, were identified, with these resulting in milder phenotypes.

View Article and Find Full Text PDF

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is considered a neurodegenerative disease caused by mutations in the SACS gene, located on chromosome 13q12.12. It is a syndrome that comprises skeletal, retinal and neurological manifestations, among which feature spasticity, cerebellar ataxia and peripheral neuropathy.

View Article and Find Full Text PDF

We retrospectively reviewed surgical biopsy findings of lesions diagnosed as radial scars (RS) at stereotactic core-needle biopsy (SCNB). RS was diagnosed in 52 of 1415 (3.7%) consecutive mammographically detected lesions that underwent 14-gauge automated SCNB.

View Article and Find Full Text PDF