|
KMID : 1197720200130030225
|
|
대한파킨슨병 및 이상운동질환 학회지
2020 Volume.13 No. 3 p.225 ~ p.228
|
|
|
Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
|
|
Yoo Dal-Lah
Choi Ji-Hyun
Im Jin-Hee
Kim Man-Jin
Kim Han-Joon
Park Sung-Sup
Jeon Beom-Seok
|
|
|
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.
|
|
|
KEYWORD
|
|
|
Fbxo7 protein, Impulse control disorders, Koreans, Parkinson’s disease
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
|
|