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Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19
Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported....
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028832/ https://www.ncbi.nlm.nih.gov/pubmed/29527639 http://dx.doi.org/10.1007/s12311-018-0927-4 |
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author | Paucar, Martin Bergendal, Åsa Gustavsson, Peter Nordenskjöld, Magnus Laffita-Mesa, José Savitcheva, Irina Svenningsson, Per |
author_facet | Paucar, Martin Bergendal, Åsa Gustavsson, Peter Nordenskjöld, Magnus Laffita-Mesa, José Savitcheva, Irina Svenningsson, Per |
author_sort | Paucar, Martin |
collection | PubMed |
description | Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported. As in other SCAs, the SCA19/22 phenotype is variable and usually consists of adult-onset slowly progressive ataxia and cognitive impairment; myoclonus and seizures; mild Parkinsonism occurs in some cases. Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3. For the first time for this disease, (18)F-fluorodeoxyglucose PET was assessed revealing widespread brain hypometabolism. In addition, we identified white matter abnormalities and found unusual features for SCA19/22 including early age of onset and fast rate of progression in the late course of disease in the oldest patient of this family. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-018-0927-4) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-6028832 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-60288322018-07-23 Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 Paucar, Martin Bergendal, Åsa Gustavsson, Peter Nordenskjöld, Magnus Laffita-Mesa, José Savitcheva, Irina Svenningsson, Per Cerebellum Original Paper Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported. As in other SCAs, the SCA19/22 phenotype is variable and usually consists of adult-onset slowly progressive ataxia and cognitive impairment; myoclonus and seizures; mild Parkinsonism occurs in some cases. Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3. For the first time for this disease, (18)F-fluorodeoxyglucose PET was assessed revealing widespread brain hypometabolism. In addition, we identified white matter abnormalities and found unusual features for SCA19/22 including early age of onset and fast rate of progression in the late course of disease in the oldest patient of this family. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s12311-018-0927-4) contains supplementary material, which is available to authorized users. Springer US 2018-03-12 2018 /pmc/articles/PMC6028832/ /pubmed/29527639 http://dx.doi.org/10.1007/s12311-018-0927-4 Text en © The Author(s) 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Original Paper Paucar, Martin Bergendal, Åsa Gustavsson, Peter Nordenskjöld, Magnus Laffita-Mesa, José Savitcheva, Irina Svenningsson, Per Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title | Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title_full | Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title_fullStr | Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title_full_unstemmed | Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title_short | Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19 |
title_sort | novel features and abnormal pattern of cerebral glucose metabolism in spinocerebellar ataxia 19 |
topic | Original Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028832/ https://www.ncbi.nlm.nih.gov/pubmed/29527639 http://dx.doi.org/10.1007/s12311-018-0927-4 |
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