Expanding the DARS phenotype: late-adult onset myelopathy and leukoencephalopathy

• Main Authors: Tan, Ai Huey, Ng, Adeline Su Lyn, Ramli, Norlisah Mohd, Lim, Weng Khong, Cheah, Peng Loon, Teo, Jing Xian, Kuan, Jyn Ling, Tan, Yi Jayne, Lim, Jia Lun, Chew, Elaine Guo Yan, Foo, Jia Nee, Goh, Khean Jin, Tan, Eng-King, Lim, Shen-Yang
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2023
• Subjects: Science::Medicine; Spastic Paraplegia; Leukoencephalopathy
• Online Access: https://hdl.handle.net/10356/169690
• Institution: Nanyang Technological University

A significant proportion of adult-onset neurological disorders remain diagnostic odysseys despite extensive evaluation. Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity (HBSL) is an autosomal recessive disorder caused by mutations in the cytoplasmic aspartyl-tRNA synthet...