Global InformationLeukoencephalopathy with brainstem and spinal cord involvement and lactate elevation information
| Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | |
|---|---|
| Specialty | Neurology |
| Symptoms | Progressive cerebellar ataxia |
| Usual onset | Adolescence |
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL) is a rare, hereditary neurodegenerative disease. The disease is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most individuals.[1] While tendon reflexes are retained, neurological dysfunction occurs in the arms and the legs with the latter being more affected. Onset of the disease arises in early childhood while some cases may arise in adulthood.[2]
- ^ Engelen, Marc; Abbink, Truus EM; Salomons, Gajja S.; van der Knaap, Marjo S. (25 May 2010). "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation". GeneReviews. University of Washington, Seattle. Retrieved 11 February 2024.
- ^ Li, Jeng‐Lin; Lee, Ni‐Chung; Chen, Pin‐Shiuan; Lee, Gin Hoong; Wu, Ruey‐Meei (October 2021). "Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra‐Familial Heterogeneity". Movement Disorders Clinical Practice. 8 (7): 1116–1122. doi:10.1002/mdc3.13281. PMC 8485606.