1. Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
- Author
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Maria Claudia Pensabene, MD, Milena Melis, MD, Laura De Corato, MD, Carla Di Stefano, MD, Giulia Pizzicannella, MD, Mariateresa Mondillo, MD, Andrea Amico, MD, Doriana Tatulli, MD, and Roberto Floris, PhD.
- Subjects
Medical physics. Medical radiology. Nuclear medicine ,R895-920 - Abstract
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by homozygous mutations in SACSgene. We present finding on MR imaging in 2 adult Italian siblings. According to the literature we have described same of typical MRI finding of autosomal recessive spastic ataxia of Charlevoix-Saguenay disease. We found slight differences in neuroimaging pattern in our patients with a similar genotype but different age and clinical severity, this suggest that brain MRI may provide potential biomarkers to assess disease progression. Keywords: Ataxia, Recessive ataxia, Genetics, Magnetic resonance imaging, Neuroradiology, Superior vermian atrophy
- Published
- 2020
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