Recent advance in sialidosis

VernacularTitle:唾液酸沉积症的研究现状
Author: Qian HE ¹ ; Xuemei WANG ; Jieyi LUO ; Bing QIN
Author Information

1. 暨南大学附属第一医院神经外科癫痫中心，广州　510630
Keywords: Sialidosis; Fundus cherry erythema; Progressive myoclonus; Epilepsy
From: Chinese Journal of Neuromedicine 2022;21(8):858-861
CountryChina
Language:Chinese
Abstract: Sialidosis is a rare autosomal recessive genetic disorder, and has a series of clinical symptoms and signs caused by neuraminidase 1 ( NEU1) gene mutations. This article reviews the etiology, clinical features, diagnoses, treatments and prognoses of sialidosis in order to improve the understanding and diagnosis of this disease and reduce the misdiagnosis of this disease.