Publications by authors named "Analia Taratuto"
Article Synopsis
- Nemaline myopathy (NM) is a muscle disorder characterized by a wide range of clinical severity, largely influenced by specific genetic mutations, with ACTA1 being a key gene linked to severe cases.
- Researchers studied a cohort of ten families with severe NM, finding that affected individuals often faced significant muscle weakness from birth and many did not survive beyond the early months of life; DNA testing revealed mutations in the ACTA1 gene for all cases.
- Muscle biopsy analysis showed distinctive NM histopathology, such as abnormal muscle structure and changes in nuclear organization, which were validated by examining similar cases, suggesting a deeper understanding of the disease's genetic and structural complexities.
CADASIL is the most common cause of hereditary stroke and vascular dementia. Published information about this disease in South America is scant. We describe clinical and demographic characteristics of 13 patients (10 families) with CADASIL from Argentina.
View Article and Find Full Text PDFMagnetic resonance imaging in E200K and V210I mutations of the prion protein gene.
Alzheimer Dis Assoc Disord
August 2013
Magnetic resonance imaging (MRI), with diffusion-weighted imaging (DWI) and fluid-attenuated inversion recovery (FLAIR), is a useful diagnostic investigation for Creutzfeldt-Jakob disease (CJD). Amendment of the diagnostic criteria for sporadic CJD (sCJD) to include defined MRI alterations has just recently been proposed. We analyzed MRI scans with FLAIR and/or DWI available of 29 patients with the E200K or the V210I mutation, and a control group of 29 sCJD patients to compare the MRI lesion profile and evaluate the applicability of new MRI criteria to genetic CJD patients.
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