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- Title
Compound Heterozygous DARS2 Mutations as a Mimic of Hereditary Spastic Paraplegia.
- Authors
Pauly, Martje G.; Hellenbroich, Yorck; Grundmann‐Hauser, Kathrin; Hinrichs, Frauke; Lohmann, Katja; Brüggemann, Norbert
- Abstract
Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. Keywords: DARS2; hereditary spastic paraplegia; leukoencephalopathy; mimic EN DARS2 hereditary spastic paraplegia leukoencephalopathy mimic 972 976 5 08/12/21 20210801 NES 210801 Compound heterozygous and sometimes homozygous mutations in the I DARS2 i gene have been described as a cause of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL; Online Mendelian Inheritance in Man: 611105).1,2 LBSL is characterized by progressive spasticity, ataxia, and dorsal column dysfunction usually starting during childhood or adolescence combined with distinct leukoencephalopathy of the brainstem and spinal cord.3 Here we describe 2 brothers with isolated, slowly progressive spastic paraparesis, proprioceptive dysfunction, and an onset in adulthood mimicking hereditary spastic paraplegia (HSP). 2 * All patients with a confirmed biallelic I DARS2 i mutation found via Pubmed (search terms: "DARS2", "LBSL", "Leukoencephalopathy with brain stem and spinal cord involvement and lactate") by February 4, 2021, were included.
- Subjects
FAMILIAL spastic paraplegia; MAGNETIC resonance imaging; NUCLEAR magnetic resonance spectroscopy; CEREBROSPINAL fluid examination; SPINAL cord
- Publication
Movement Disorders Clinical Practice, 2021, Vol 8, Issue 6, p972
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13258