Recent advance in sialidosis / 中华神经医学杂志

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.