期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 5, 期 12, 页码 1622-1626出版社
WILEY
DOI: 10.1002/acn3.672
关键词
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资金
- National Multiple Sclerosis Society
- Rare Trait Hope Fund
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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