Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7.
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ABSTRACT:
SUBMITTER: Yoo D
PROVIDER: S-EPMC7502300 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
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Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7.
Yoo Dallah D Choi Ji-Hyun JH Im Jin-Hee JH Kim Man Jin MJ Kim Han-Joon HJ Park Sung Sup SS Jeon Beomseok B
Journal of movement disorders 20200909 3
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. ...[more]
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