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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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. |
format | Online Article Text |
id | pubmed-7044677 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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