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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2020
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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. |
format | Online Article Text |
id | pubmed-7502300 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | The Korean Movement Disorder Society |
record_format | MEDLINE/PubMed |
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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