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 journalArticle

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 languageEnglish (US)
JournalAnnals of Clinical and Translational Neurology
DOIs
StateAccepted/In press - Jan 1 2018

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ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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