Expanding the DARS phenotype: late-adult onset myelopathy and leukoencephalopathy
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...
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: | Journal Article |
Language: | English |
Published: |
2023
|
Subjects: | |
Online Access: | https://hdl.handle.net/10356/169690 |
Similar Items
-
Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy
by: Jin Ho Jung, et al.
Published: (2022-01-01) -
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) on Magnetic Resonance Spectroscopy: A Clinical Observation
by: Alexander Yu. Kazantsev, et al.
Published: (2020-06-01) -
Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant
by: Haruko Nakamura, et al.
Published: (2024-09-01) -
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56
by: Wejdan Almasoudi, et al.
Published: (2023-01-01) -
High diagnostic utility incorporating a targeted neurodegeneration gene panel with MRI brain diagnostic algorithms in patients with young-onset cognitive impairment with leukodystrophy
by: Chen, Zhiyong, et al.
Published: (2021)