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- Title
Optical coherence tomography features in brothers with aspartylglucosaminuria.
- Authors
Goodspeed, Kimberly; Harder, Lana; Hughes, Samuel; Conger, Darrel; Taravella, Julia; Gray, Steven J; Minassian, Berge
- Abstract
Aspartylglucosaminuria is a lysosomal storage disorder enriched in Finland. We report on a pair of non‐Finnish siblings with aspartylglucosaminuria with autofluorescent inclusion bodies on optical coherence tomography, a finding not previously reported in this disorder. We performed a record review, neurological and neuropsychological evaluation, brain MRI, and optical coherence tomography for each patient. They are compound heterozygous for a 34‐kb deletion and a c.365C>A novel variant of the AGA gene. Autofluorescent inclusion bodies were found on optical coherence tomography in the older, more severely affected brother. We hypothesize the finding represents a noninvasive biomarker of disease severity for aspartylglucosaminuria.
- Subjects
FINLAND; OPTICAL coherence tomography; NEUROPSYCHOLOGICAL tests; CELLULAR inclusions; BROTHERS; LYSOSOMAL storage diseases
- Publication
Annals of Clinical & Translational Neurology, 2018, Vol 5, Issue 12, p1622
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.672