Open AccessYoung-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Author(s) -
Dallah Yoo,
Ji-Hyun Choi,
Jin-Hee Im,
Man Jin Kim,
Han Joon Kim,
Sung Sup Park,
Beomseok Jeon
Publication year - 2020
Publication title -
journal of movement disorders
Language(s) - English
Resource type - Journals
eISSN - 2093-4939
pISSN - 2005-940X
DOI - 10.14802/jmd.20026
Subject(s) - medicine , parkinsonism , impulse control , phenotype , disease , genetics , gene , compound heterozygosity , genotype , impulse control disorder , bioinformatics , pathology , biology , psychiatry , pathological
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.