@article{ca36ef37c5254677be6d1aa58bc35079,
title = "Optical coherence tomography features in brothers with aspartylglucosaminuria",
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.",
author = "Kimberly Goodspeed and Harder, {Lana L} and Samuel Hughes and Darrel Conger and Julia Taravella and Gray, {Steven James} and Minassian, {Berge Arakel}",
note = "Funding Information: This work was supported by the National Multiple Sclerosis Society, Rare Trait Hope Fund. Funding Information: This work was supported by the Rare Trait Hope Fund, which is seeking to expand the number of diagnosed AGU patients toward a gene therapy clinical trial presently in planning stages at the University of Texas South-western Medical Center and Children{\textquoteright}s Health Dallas, and the Jimmy Elizabeth Westcott Chair in Pediatric Neurology (B.M.). Funding Information: S.J.G. was supported by grants from the Rare Trait Hope Fund and has a patent optimized AGA genes and expression cassette licensed to Neurogene, LLC. L.H. has grant support from the National Multiple Sclerosis Society and educational consultation fees from Novartis not directly related to this work. K.G., S.H., D.C., J.T., and B.M. have nothing to disclose.. Publisher Copyright: {\textcopyright} 2018 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. Copyright: Copyright 2019 Elsevier B.V., All rights reserved.",
year = "2018",
month = dec,
doi = "10.1002/acn3.672",
language = "English (US)",
volume = "5",
pages = "1622--1626",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "12",
}