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Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japane...

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Autores principales: Miura, Shiroh, Hiruki, Shigeyoshi, Okada, Tomohisa, Takei, Satoko Itani, Senzaki, Kensuke, Okada, Yoko, Ochi, Masayuki, Tanabe, Yuki, Ochi, Hirofumi, Igase, Michiya, Ohyagi, Yasumasa, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250589/
https://www.ncbi.nlm.nih.gov/pubmed/37303947
http://dx.doi.org/10.3389/fgene.2023.1155998
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author Miura, Shiroh
Hiruki, Shigeyoshi
Okada, Tomohisa
Takei, Satoko Itani
Senzaki, Kensuke
Okada, Yoko
Ochi, Masayuki
Tanabe, Yuki
Ochi, Hirofumi
Igase, Michiya
Ohyagi, Yasumasa
Shibata, Hiroki
author_facet Miura, Shiroh
Hiruki, Shigeyoshi
Okada, Tomohisa
Takei, Satoko Itani
Senzaki, Kensuke
Okada, Yoko
Ochi, Masayuki
Tanabe, Yuki
Ochi, Hirofumi
Igase, Michiya
Ohyagi, Yasumasa
Shibata, Hiroki
author_sort Miura, Shiroh
collection PubMed
description Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japanese patient with frontotemporal dementia and amyotrophic lateral sclerosis. The patient began noticing gait disturbances at the age of 45 years. Neurological examination at the age of 46 years met the Awaji criteria for clinically probable amyotrophic lateral sclerosis. At the age of 49 years, she tended to have poor mood and an aversion to activity. Her symptoms gradually worsened. She required a wheelchair for transport and had difficulty communicating with others because of poor comprehension. She then began to frequently exhibit irritability. Eventually, she was admitted to the psychiatric hospital because uncontrollable violent behavior throughout the day. Longitudinal brain magnetic resonance imaging revealed progressive brain atrophy with temporal dominance, non-progressive cerebellar atrophy, and some non-specific white matter intensities. Brain single photon emission computed tomography showed hypoperfusion in the bilateral temporal lobes and cerebellar hemispheres. Clinical exome sequencing revealed the presence of a heterozygous nonsynonymous variant (NM_007126.5, c.265C>T; p.Arg89Trp) in the valosin-containing protein gene, which was absent in the 1000 Genomes Project, the Exome Aggregation Consortium Database, and the Genome Aggregation Database, and was predicted to be “damaging” by PolyPhen-2 and “deleterious” using SIFT with a Combined Annotation Dependent Depletion score of 35. We also confirmed the absence of this variant in 505 Japanese control subjects. Therefore, we concluded that the variant in the valosin-containing protein gene was responsible for the symptoms of this patient.
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spelling pubmed-102505892023-06-10 Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene Miura, Shiroh Hiruki, Shigeyoshi Okada, Tomohisa Takei, Satoko Itani Senzaki, Kensuke Okada, Yoko Ochi, Masayuki Tanabe, Yuki Ochi, Hirofumi Igase, Michiya Ohyagi, Yasumasa Shibata, Hiroki Front Genet Genetics Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japanese patient with frontotemporal dementia and amyotrophic lateral sclerosis. The patient began noticing gait disturbances at the age of 45 years. Neurological examination at the age of 46 years met the Awaji criteria for clinically probable amyotrophic lateral sclerosis. At the age of 49 years, she tended to have poor mood and an aversion to activity. Her symptoms gradually worsened. She required a wheelchair for transport and had difficulty communicating with others because of poor comprehension. She then began to frequently exhibit irritability. Eventually, she was admitted to the psychiatric hospital because uncontrollable violent behavior throughout the day. Longitudinal brain magnetic resonance imaging revealed progressive brain atrophy with temporal dominance, non-progressive cerebellar atrophy, and some non-specific white matter intensities. Brain single photon emission computed tomography showed hypoperfusion in the bilateral temporal lobes and cerebellar hemispheres. Clinical exome sequencing revealed the presence of a heterozygous nonsynonymous variant (NM_007126.5, c.265C>T; p.Arg89Trp) in the valosin-containing protein gene, which was absent in the 1000 Genomes Project, the Exome Aggregation Consortium Database, and the Genome Aggregation Database, and was predicted to be “damaging” by PolyPhen-2 and “deleterious” using SIFT with a Combined Annotation Dependent Depletion score of 35. We also confirmed the absence of this variant in 505 Japanese control subjects. Therefore, we concluded that the variant in the valosin-containing protein gene was responsible for the symptoms of this patient. Frontiers Media S.A. 2023-05-26 /pmc/articles/PMC10250589/ /pubmed/37303947 http://dx.doi.org/10.3389/fgene.2023.1155998 Text en Copyright © 2023 Miura, Hiruki, Okada, Takei, Senzaki, Okada, Ochi, Tanabe, Ochi, Igase, Ohyagi and Shibata. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Miura, Shiroh
Hiruki, Shigeyoshi
Okada, Tomohisa
Takei, Satoko Itani
Senzaki, Kensuke
Okada, Yoko
Ochi, Masayuki
Tanabe, Yuki
Ochi, Hirofumi
Igase, Michiya
Ohyagi, Yasumasa
Shibata, Hiroki
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title_full Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title_fullStr Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title_full_unstemmed Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title_short Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
title_sort case report: frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.arg89trp) in the valosin-containing protein gene
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10250589/
https://www.ncbi.nlm.nih.gov/pubmed/37303947
http://dx.doi.org/10.3389/fgene.2023.1155998
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