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Transcranial sonography changes in heterozygotic carriers of the ATP7B gene

PURPOSE: Wilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the basal ganglia. Heterozygotic carriers of one faulty ATP7...

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Autores principales: Skowronska, Marta, Litwin, Tomasz, Kurkowska-Jastrzębska, Iwona, Członkowska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419484/
https://www.ncbi.nlm.nih.gov/pubmed/32270360
http://dx.doi.org/10.1007/s10072-020-04378-6
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author Skowronska, Marta
Litwin, Tomasz
Kurkowska-Jastrzębska, Iwona
Członkowska, Anna
author_facet Skowronska, Marta
Litwin, Tomasz
Kurkowska-Jastrzębska, Iwona
Członkowska, Anna
author_sort Skowronska, Marta
collection PubMed
description PURPOSE: Wilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the basal ganglia. Heterozygotic carriers of one faulty ATP7B gene should not exhibit symptoms of WD, but one in three heterozygotes has copper metabolism abnormalities. This study examined heterozygote ATP7B mutation carriers using TCS to assess any basal ganglia changes compared with healthy controls. METHODS: Heterozygote carriers and healthy volunteers underwent the same standard MR and TCS imaging protocols. Heterozygotes were followed for 5 years and monitored for the development of neurological symptoms. RESULTS: The study assessed 34 heterozygotes (21 women), with mean age of 43 years (range of 18 to 74 years) and 18 healthy controls (13 women), with mean age of 47 years (range of 20 to 73 years). Bilateral lenticular nucleus (LN) hyperechogenicity was found in 25 heterozygotes, but none of the controls (p < 0.001). Bilateral substantia nigra (SN) hyperechogenicity was found in 8 heterozygotes and one control; another 3 heterozygotes had unilateral SN hyperechogenicity (p = 0.039 for the right; p = 0.176 for the left). Heterozygotes had larger SN area on both sides compared with controls (p = 0.005 right; p = 0.008 left). CONCLUSIONS: SN and LN hyperechogenicity were more frequent in heterozygotes than in controls, probably due to copper accumulation, but it remains unknown if this predisposes to brain neurodegeneration.
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spelling pubmed-74194842020-08-18 Transcranial sonography changes in heterozygotic carriers of the ATP7B gene Skowronska, Marta Litwin, Tomasz Kurkowska-Jastrzębska, Iwona Członkowska, Anna Neurol Sci Original Article PURPOSE: Wilson’s disease (WD) is an autosomal recessive disorder of ATP7B gene leading to impaired copper metabolism. Brain imaging, such as magnetic resonance (MR) and transcranial sonography (TCS) in WD patients, shows changes mostly in the basal ganglia. Heterozygotic carriers of one faulty ATP7B gene should not exhibit symptoms of WD, but one in three heterozygotes has copper metabolism abnormalities. This study examined heterozygote ATP7B mutation carriers using TCS to assess any basal ganglia changes compared with healthy controls. METHODS: Heterozygote carriers and healthy volunteers underwent the same standard MR and TCS imaging protocols. Heterozygotes were followed for 5 years and monitored for the development of neurological symptoms. RESULTS: The study assessed 34 heterozygotes (21 women), with mean age of 43 years (range of 18 to 74 years) and 18 healthy controls (13 women), with mean age of 47 years (range of 20 to 73 years). Bilateral lenticular nucleus (LN) hyperechogenicity was found in 25 heterozygotes, but none of the controls (p < 0.001). Bilateral substantia nigra (SN) hyperechogenicity was found in 8 heterozygotes and one control; another 3 heterozygotes had unilateral SN hyperechogenicity (p = 0.039 for the right; p = 0.176 for the left). Heterozygotes had larger SN area on both sides compared with controls (p = 0.005 right; p = 0.008 left). CONCLUSIONS: SN and LN hyperechogenicity were more frequent in heterozygotes than in controls, probably due to copper accumulation, but it remains unknown if this predisposes to brain neurodegeneration. Springer International Publishing 2020-04-09 2020 /pmc/articles/PMC7419484/ /pubmed/32270360 http://dx.doi.org/10.1007/s10072-020-04378-6 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Original Article
Skowronska, Marta
Litwin, Tomasz
Kurkowska-Jastrzębska, Iwona
Członkowska, Anna
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title_full Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title_fullStr Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title_full_unstemmed Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title_short Transcranial sonography changes in heterozygotic carriers of the ATP7B gene
title_sort transcranial sonography changes in heterozygotic carriers of the atp7b gene
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419484/
https://www.ncbi.nlm.nih.gov/pubmed/32270360
http://dx.doi.org/10.1007/s10072-020-04378-6
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