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Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?
Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of geneti...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840231/ https://www.ncbi.nlm.nih.gov/pubmed/33121223 http://dx.doi.org/10.14802/jmd.20083 |
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author | Neeraja, Koti Holla, Vikram Venkappayya Prasad, Shweta Surisetti, Bharath Kumar Rakesh, Kempaiah Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar |
author_facet | Neeraja, Koti Holla, Vikram Venkappayya Prasad, Shweta Surisetti, Bharath Kumar Rakesh, Kempaiah Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar |
author_sort | Neeraja, Koti |
collection | PubMed |
description | Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS. |
format | Online Article Text |
id | pubmed-7840231 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | The Korean Movement Disorder Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-78402312021-02-05 Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? Neeraja, Koti Holla, Vikram Venkappayya Prasad, Shweta Surisetti, Bharath Kumar Rakesh, Kempaiah Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar J Mov Disord Case Report Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS. The Korean Movement Disorder Society 2021-01 2020-10-31 /pmc/articles/PMC7840231/ /pubmed/33121223 http://dx.doi.org/10.14802/jmd.20083 Text en Copyright © 2021 The Korean Movement Disorder Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Neeraja, Koti Holla, Vikram Venkappayya Prasad, Shweta Surisetti, Bharath Kumar Rakesh, Kempaiah Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title | Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title_full | Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title_fullStr | Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title_full_unstemmed | Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title_short | Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis? |
title_sort | sialidosis type i without a cherry red spot— is there a genetic basis? |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840231/ https://www.ncbi.nlm.nih.gov/pubmed/33121223 http://dx.doi.org/10.14802/jmd.20083 |
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