Optical coherence tomography features in brothers with aspartylglucosaminuria

Kimberly Goodspeed; Lana L Harder; Samuel Hughes; Darrel Conger; Julia Taravella; Steven James Gray; Berge Arakel Minassian

doi:10.1002/acn3.672

Optical coherence tomography features in brothers with aspartylglucosaminuria

Kimberly Goodspeed, Lana L Harder, Samuel Hughes, Darrel Conger, Julia Taravella, Steven James Gray, Berge Arakel Minassian

Research output: Contribution to journal › Article

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)
Pages (from-to)	1622-1626
Number of pages	5
Journal	Annals of Clinical and Translational Neurology
Volume	5
Issue number	12
DOIs	https://doi.org/10.1002/acn3.672
State	Published - Dec 2018

ASJC Scopus subject areas

Neuroscience(all)
Clinical Neurology

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Goodspeed, K., Harder, L. L., Hughes, S., Conger, D., Taravella, J., Gray, S. J., & Minassian, B. A. (2018). Optical coherence tomography features in brothers with aspartylglucosaminuria. Annals of Clinical and Translational Neurology, 5(12), 1622-1626. https://doi.org/10.1002/acn3.672

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