Primary familial brain calcification presenting with parkinsonism and motor complications caused by a novel SLC20A2 variant: a case report.
Front Neurol
; 15: 1382534, 2024.
Article
em En
| MEDLINE
| ID: mdl-39036637
ABSTRACT
Primary familial brain calcification (PFBC), also known as Fahr's disease, is a central nervous system calcium deposition disorder with symmetrical basal ganglia calcification. Most PFBC cases are caused by SLC20A2 gene variant. We report a Chinese female patient with PFBC and dopamine-responsive parkinsonism who had motor fluctuations and dyskinesia and recovered effectively after symptomatic medication adjustment. A novel heterozygous missense variant was found by whole-exome sequencing and proven harmful by family validation and genetic analysis. This example expands the phenotype of SLC20A2-associated PFBC patients and shows the clinical efficacy of dopaminergic replacement treatment.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Front Neurol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Suíça