Young-Onset Parkinson’s Disease with Impulse Control Disorder Due to Novel Variants of F-Box Only Protein 7
Journal of Movement Disorders
; : 225-228, 2020.
Artigo
em 0
| WPRIM (Pacífico Ocidental)
| ID: wpr-836189
Biblioteca responsável:
WPRO
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:
Disponível
Contexto em Saúde:
Agenda de Saúde Sustentável para as Américas
Problema de saúde:
Objetivo 10: Doenças transmissíveis
Base de dados:
WPRIM (Pacífico Ocidental)
Idioma:
0
Revista:
Journal of Movement Disorders
Ano de publicação:
2020
Tipo de documento:
Artigo