MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cer...

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Autores principales: Yoshii, Fumihito, Tomiyasu, Hitoshi, Watanabe, Ryo, Ryo, Masafuchi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803720/
https://www.ncbi.nlm.nih.gov/pubmed/29422848
http://dx.doi.org/10.1159/000481303
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author Yoshii, Fumihito
Tomiyasu, Hitoshi
Watanabe, Ryo
Ryo, Masafuchi
author_facet Yoshii, Fumihito
Tomiyasu, Hitoshi
Watanabe, Ryo
Ryo, Masafuchi
author_sort Yoshii, Fumihito
collection PubMed
description Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias.
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spelling pubmed-58037202018-02-08 MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2 Yoshii, Fumihito Tomiyasu, Hitoshi Watanabe, Ryo Ryo, Masafuchi Case Rep Neurol Case Report Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias. S. Karger AG 2017-11-10 /pmc/articles/PMC5803720/ /pubmed/29422848 http://dx.doi.org/10.1159/000481303 Text en Copyright © 2017 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Yoshii, Fumihito
Tomiyasu, Hitoshi
Watanabe, Ryo
Ryo, Masafuchi
MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title_full MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title_fullStr MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title_full_unstemmed MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title_short MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2
title_sort mri signal abnormalities of the inferior olivary nuclei in spinocerebellar ataxia type 2
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803720/
https://www.ncbi.nlm.nih.gov/pubmed/29422848
http://dx.doi.org/10.1159/000481303
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