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) |
|---|---|
| Journal | Annals of Clinical and Translational Neurology |
| DOIs | |
| State | Accepted/In press - Jan 1 2018 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
Cite this
Optical coherence tomography features in brothers with aspartylglucosaminuria. / Goodspeed, Kimberly; Harder, Lana L; Hughes, Samuel; Conger, Darrel; Taravella, Julia; Gray, Steven James; Minassian, Berge Arakel.
In: Annals of Clinical and Translational Neurology, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Optical coherence tomography features in brothers with aspartylglucosaminuria
AU - Goodspeed, Kimberly
AU - Harder, Lana L
AU - Hughes, Samuel
AU - Conger, Darrel
AU - Taravella, Julia
AU - Gray, Steven James
AU - Minassian, Berge Arakel
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=85055470668&partnerID=8YFLogxK
U2 - 10.1002/acn3.672
DO - 10.1002/acn3.672
M3 - Article
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
SN - 2328-9503
ER -