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A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus
A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414494/ https://www.ncbi.nlm.nih.gov/pubmed/30911583 http://dx.doi.org/10.1002/acn3.702 |
| _version_ | 1783402987970887680 |
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| author | Lamquet, Simon Ramos, Eliana M. Legati, Andrea Coppola, Giovanni Hemelsoet, Dimitri Vanakker, Olivier M. |
| author_facet | Lamquet, Simon Ramos, Eliana M. Legati, Andrea Coppola, Giovanni Hemelsoet, Dimitri Vanakker, Olivier M. |
| author_sort | Lamquet, Simon |
| collection | PubMed |
| description | A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC20A2 gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic father to harbor the same mutation, though on brain imaging basal ganglia calcifications were found. This report illustrates the intrafamilial variability of the phenotype and generalized myoclonus as the presenting symptom. |
| format | Online Article Text |
| id | pubmed-6414494 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-64144942019-03-25 A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus Lamquet, Simon Ramos, Eliana M. Legati, Andrea Coppola, Giovanni Hemelsoet, Dimitri Vanakker, Olivier M. Ann Clin Transl Neurol Brief Communications A 60‐year‐old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC20A2 gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic father to harbor the same mutation, though on brain imaging basal ganglia calcifications were found. This report illustrates the intrafamilial variability of the phenotype and generalized myoclonus as the presenting symptom. John Wiley and Sons Inc. 2019-02-01 /pmc/articles/PMC6414494/ /pubmed/30911583 http://dx.doi.org/10.1002/acn3.702 Text en © 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Brief Communications Lamquet, Simon Ramos, Eliana M. Legati, Andrea Coppola, Giovanni Hemelsoet, Dimitri Vanakker, Olivier M. A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title | A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title_full | A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title_fullStr | A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title_full_unstemmed | A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title_short | A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus |
| title_sort | likely pathogenic variant in the slc20a2 gene presenting with progressive myoclonus |
| topic | Brief Communications |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6414494/ https://www.ncbi.nlm.nih.gov/pubmed/30911583 http://dx.doi.org/10.1002/acn3.702 |
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