Leukoencephalopathy with neuroaxonal spheroids
| Leukoencephalopathy with neuroaxonal spheroids | |
|---|---|
| Specialty | Neurology |
Leukoencephalopathy with neuroaxonal spheroids (LENAS), also known as adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD)[1] is an extremely rare kind of leukoencephalopathy and is classified as a neurodegenerative disease. LENAS is a cause of severe and subacute dementia that results from damage to certain areas of the brain. This damage is to a type of brain tissue called white matter and axon damage due to swellings which are termed spheroids.[2]
The rarity and unknown prevalence of this disease may be due to most symptoms being similar to other common disorders, leading to misdiagnosis.[3] LENAS normally has an adult onset (but also can be present in childhood), which can present on MRIs that mimics progressive multiple sclerosis and is thus misdiagnosed for this instead.[4]
The genetic etiology of LENAS is known to follow an autosomal dominant pattern through a mutation in the CSF1R gene.
- ^ Adams, Scott J.; Kirk, Andrew; Auer, Roland N. (2018). "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD)". Journal of Clinical Neuroscience. 48: 42–49. doi:10.1016/j.jocn.2017.10.060. PMID 29122458.
- ^ "Hereditary diffuse leukoencephalopathy with spheroids | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on December 19, 2016. Retrieved 2020-11-10.
- ^ "Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2020-11-10.
- ^ Keegan BM, Giannini C, Parisi JE, Lucchinetti CF, Boeve BF, Josephs KA (March 2008). "Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS". Neurology. 70 (13 Pt 2): 1128–33. doi:10.1212/01.wnl.0000304045.99153.8f. PMID 18287567. S2CID 21341310.