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.
Original language | English (US) |
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Pages (from-to) | 1622-1626 |
Number of pages | 5 |
Journal | Annals of Clinical and Translational Neurology |
Volume | 5 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2018 |
ASJC Scopus subject areas
- General Neuroscience
- Clinical Neurology