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

Journal of Movement Disorders 2020년 13권 3호 p.225 ~ 228
유달라, 최지현, 임진희, 김만진, 김한준, 박성섭, 전범석,
소속 상세정보
유달라 ( Yoo Dal-Lah ) - Seoul National University Hospital Department of Neurology
최지현 ( Choi Ji-Hyun ) - Seoul National University Hospital Department of Neurology
임진희 ( Im Jin-Hee ) - Seoul National University Hospital Department of Neurology
김만진 ( Kim Man-Jin ) - Seoul National University Hospital Department of Laboratory Medicine
김한준 ( Kim Han-Joon ) - Seoul National University Hospital Department of Neurology
박성섭 ( Park Sung-Sup ) - Seoul National University Hospital Department of Laboratory Medicine
전범석 ( Jeon Beom-Seok ) - Seoul National University Hospital Department of Neurology

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.

키워드

Fbxo7 protein; Impulse control disorders; Koreans; Parkinson’s disease

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