| 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. 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.
Signs and symptoms
The most common symptoms experienced in LBSL are:
- Spasticity of the muscles
- Dysarthria
- Problems with Proprioception
- Hand tremors
- Nystagmus
- Seizures
Cause
LBSL is caused by an abnormal variant on in the DARS2 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body.
References
- 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.
- "Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Symptoms, Causes, Treatment | NORD". rarediseases.org.
- van Berge, L.; Hamilton, E. M.; Linnankivi, T.; Uziel, G.; Steenweg, M. E.; Isohanni, P.; Wolf, N. I.; Krageloh-Mann, I.; Brautaset, N. J.; Andrews, P. I.; de Jong, B. A.; al Ghamdi, M.; van Wieringen, W. N.; Tannous, B. A.; Hulleman, E.; Wurdinger, T.; van Berkel, C. G. M.; Polder, E.; Abbink, T. E. M.; Struys, E. A.; Scheper, G. C.; van der Knaap, M. S.; Alehan, F.; Appleton, R. E.; Boltshauser, E.; Brockmann, K.; Calado, E.; Carius, A.; de Coo, I. F. M.; van Coster, R.; El-Zind, S.; Erturk, O.; Fadeeva, L.; Feigenbaum, A.; Gokben, S.; Gorman, M.; Gulati, S.; Hnevsova, P.; Joost, K.; Kohler, W.; Kolk, A.; Kristoferitsch, W.; Lemos Silveira, E.; Lin, J.; Lutz, S.; Mendonca, C.; Nuttin, C.; Opladen, T.; Savoiardo, M.; Schiffmann, R.; Seitz, A.; Serkov, S.; Sharma, S.; Stockler, S.; Temple, I. K.; Uluc, K.; Vojta, S.; Wilms, G.; Wong, B.; Yapici, Z. (24 February 2014). "Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy". Brain. 137 (4): 1019–1029. doi:10.1093/brain/awu026.