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15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease
15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrosp...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Riyadh : Armed Forces Hospital
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424984/ http://dx.doi.org/10.17712/nsj.2022.3.20220033 |
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author | Sha, Qianqian Xia, Yu Shen, Xiya Du, Ailian |
author_facet | Sha, Qianqian Xia, Yu Shen, Xiya Du, Ailian |
author_sort | Sha, Qianqian |
collection | PubMed |
description | 15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrospectively described a 50-year-old male patient who manifested with progressive spastic paraplegia of lower limbs and episodic exacerbation. While brain MRI showed white matter hyperintensities, lacunes, cerebral microbleeds, enlarged perivascular spaces, and brain atrophy, mimicking small vessel disease. Next-generation sequencing combining multiplex ligation-dependent probe amplification identified a 253 kb 15q11.2 BP1-BP2 microdeletion, encompassing 4 conserved imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5). This report will build new connections among spastic paraplegia, small vessel disease and 15q11.2 BP1-BP2 microdeletion. |
format | Online Article Text |
id | pubmed-9424984 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Riyadh : Armed Forces Hospital |
record_format | MEDLINE/PubMed |
spelling | pubmed-94249842022-09-27 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease Sha, Qianqian Xia, Yu Shen, Xiya Du, Ailian Neurosciences (Riyadh) Case Report 15q11.2 BP1-BP2 microdeletion is related to clinical abnormalities including general developmental delay, speech and neuropsychiatric disorders, which is known as Angelman syndrome. However, the clinical penetrance and phenotype of 15q11.2 BP1-BP2 deletion is varied and confusing. Herein, we retrospectively described a 50-year-old male patient who manifested with progressive spastic paraplegia of lower limbs and episodic exacerbation. While brain MRI showed white matter hyperintensities, lacunes, cerebral microbleeds, enlarged perivascular spaces, and brain atrophy, mimicking small vessel disease. Next-generation sequencing combining multiplex ligation-dependent probe amplification identified a 253 kb 15q11.2 BP1-BP2 microdeletion, encompassing 4 conserved imprinted genes (NIPA1, NIPA2, CYFIP1 and TUBGCP5). This report will build new connections among spastic paraplegia, small vessel disease and 15q11.2 BP1-BP2 microdeletion. Riyadh : Armed Forces Hospital 2022-07 /pmc/articles/PMC9424984/ http://dx.doi.org/10.17712/nsj.2022.3.20220033 Text en Copyright: © Neurosciences https://creativecommons.org/licenses/by-nc/3.0/Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. |
spellingShingle | Case Report Sha, Qianqian Xia, Yu Shen, Xiya Du, Ailian 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title | 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title_full | 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title_fullStr | 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title_full_unstemmed | 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title_short | 15q11.2 BP1-BP2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
title_sort | 15q11.2 bp1-bp2 microdeletion presenting as progressive spastic paraplegia and brain images of small vessel disease |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424984/ http://dx.doi.org/10.17712/nsj.2022.3.20220033 |
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