Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings

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; Roberto Floris, PhD.

Radiology Case Reports (May 2020)

Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings

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,
Roberto Floris, PhD.

Affiliations

Maria Claudia Pensabene, MD: Corresponding author.; University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Milena Melis, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Laura De Corato, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Carla Di Stefano, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Giulia Pizzicannella, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Mariateresa Mondillo, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Andrea Amico, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Doriana Tatulli, MD: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy
Roberto Floris, PhD.: University of Rome Tor Vergata, Department of Experimental Medicine and Surgery, Rome, Italy

Journal volume & issue: Vol. 15, no. 5
pp. 507 – 510

Abstract

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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 in Radiology Case Reports

ISSN: 1930-0433 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General): Medical physics. Medical radiology. Nuclear medicine
Website: https://www.sciencedirect.com/journal/radiology-case-reports

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