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Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7

F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in...

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Autores principales: Yoo, Dallah, Choi, Ji-Hyun, Im, Jin-Hee, Kim, Man Jin, Kim, Han-Joon, Park, Sung Sup, Jeon, Beomseok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502300/
https://www.ncbi.nlm.nih.gov/pubmed/32894901
http://dx.doi.org/10.14802/jmd.20026
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author Yoo, Dallah
Choi, Ji-Hyun
Im, Jin-Hee
Kim, Man Jin
Kim, Han-Joon
Park, Sung Sup
Jeon, Beomseok
author_facet Yoo, Dallah
Choi, Ji-Hyun
Im, Jin-Hee
Kim, Man Jin
Kim, Han-Joon
Park, Sung Sup
Jeon, Beomseok
author_sort Yoo, Dallah
collection PubMed
description F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism.
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spelling pubmed-75023002020-09-25 Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7 Yoo, Dallah Choi, Ji-Hyun Im, Jin-Hee Kim, Man Jin Kim, Han-Joon Park, Sung Sup Jeon, Beomseok J Mov Disord Case Report F-box only protein 7 (FBXO7) is a rare monogenic cause of hereditary Parkinson’s disease (PD) with an autosomal recessive mode of inheritance and a broad spectrum of clinical manifestations. Here, we report a de novo PD patient with onset at the age of 28 with novel compound heterozygous variants in the FBXO7 gene (c.1162C>T, p.Gln388X; c.80G>A, p.Arg27His). The clinical features of the patient were problematic impulse control disorder behaviors and pyromania, and pyramidal signs were negative. We describe the novel pathogenic variants of the FBXO7 gene with detailed clinical pictures to report the expanding genotypes and phenotypes of FBXO7-associated parkinsonism. The Korean Movement Disorder Society 2020-09 2020-09-09 /pmc/articles/PMC7502300/ /pubmed/32894901 http://dx.doi.org/10.14802/jmd.20026 Text en Copyright © 2020 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
Yoo, Dallah
Choi, Ji-Hyun
Im, Jin-Hee
Kim, Man Jin
Kim, Han-Joon
Park, Sung Sup
Jeon, Beomseok
Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title_full Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title_fullStr Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title_full_unstemmed Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title_short Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
title_sort young-onset parkinson’s disease with impulse control disorder due to novel variants of f-box only protein 7
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502300/
https://www.ncbi.nlm.nih.gov/pubmed/32894901
http://dx.doi.org/10.14802/jmd.20026
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