J Mov Disord.
2020 Sep;13(3):225-228. 10.14802/jmd.20026.
Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
- Affiliations
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- 1Department of Neurology and Movement Disorder Center, Parkinson Study Group, Neuroscience Research Institute, College of Medicine, Seoul National University Hospital, Seoul, Korea
- 2Department of Neurology, Kyung Hee University Hospital, Seoul, Korea
- 3Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
- KMID: 2506752
- DOI: http://doi.org/10.14802/jmd.20026
Abstract
- 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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