Young-Onset Parkinson's Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7.
J Mov Disord
; 13(3): 225-228, 2020 Sep.
Article
em En
| MEDLINE
| ID: mdl-32894901
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.
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article