Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
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...
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Veröffentlicht in: | Journal of movement disorders 2020, 13(3), , pp.225-228 |
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Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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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ISSN: | 2005-940X 2093-4939 |
DOI: | 10.14802/jmd.20026 |