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

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 sp...

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Autores principales: Pensabene, Maria Claudia, Melis, Milena, Corato, Laura De, Stefano, Carla Di, Pizzicannella, Giulia, Mondillo, Mariateresa, Amico, Andrea, Tatulli, Doriana, Floris, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044677/
https://www.ncbi.nlm.nih.gov/pubmed/32140197
http://dx.doi.org/10.1016/j.radcr.2019.12.024
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author Pensabene, Maria Claudia
Melis, Milena
Corato, Laura De
Stefano, Carla Di
Pizzicannella, Giulia
Mondillo, Mariateresa
Amico, Andrea
Tatulli, Doriana
Floris, Roberto
author_facet Pensabene, Maria Claudia
Melis, Milena
Corato, Laura De
Stefano, Carla Di
Pizzicannella, Giulia
Mondillo, Mariateresa
Amico, Andrea
Tatulli, Doriana
Floris, Roberto
author_sort Pensabene, Maria Claudia
collection PubMed
description 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.
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spelling pubmed-70446772020-03-05 Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings Pensabene, Maria Claudia Melis, Milena Corato, Laura De Stefano, Carla Di Pizzicannella, Giulia Mondillo, Mariateresa Amico, Andrea Tatulli, Doriana Floris, Roberto Radiol Case Rep Neuroradiology 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. Elsevier 2020-02-25 /pmc/articles/PMC7044677/ /pubmed/32140197 http://dx.doi.org/10.1016/j.radcr.2019.12.024 Text en © 2020 Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Neuroradiology
Pensabene, Maria Claudia
Melis, Milena
Corato, Laura De
Stefano, Carla Di
Pizzicannella, Giulia
Mondillo, Mariateresa
Amico, Andrea
Tatulli, Doriana
Floris, Roberto
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title_full Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title_fullStr Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title_full_unstemmed Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title_short Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings
title_sort autosomal recessive spastic ataxia of charlevoix-saguenay: findings from mri in two adult italian siblings
topic Neuroradiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044677/
https://www.ncbi.nlm.nih.gov/pubmed/32140197
http://dx.doi.org/10.1016/j.radcr.2019.12.024
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