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Title 

Type 1 sialidosis patient with a novel deletion mutation in the NEU1 gene: case report and literature review

Authors 

J H AhnA R KimC LeeN K D KimNam-Soon KimW Y ParkM KimJ YounJ W ChoJ S Kim

Publisher 

Springer Verlag (Germany)

Issue Date 

2019

Citation 

Cerebellum

Keywords 

SialidosisNEU1 geneNext-generation sequencingLysosomal storage disease

Abstract 

Recent advances in next-generation sequencing technologies have uncovered the genetic backgrounds of various diseases. Type 1 sialidosis (OMIM#256550) is a rare autosomal recessive lysosomal storage disease caused by a mutation in the NEU1 (OMIM * 608272) gene. In this study, we aimed to review the previous reports of type 1 sialidosis and compare those with the first case of type 1 sialidosis in Korea.A36-year-old woman presented with progressive ataxia, myoclonus, and seizure since the age of 12. Whole-exome sequencing revealed a pathogenic missense variant c.928G >A (p.D310N) and novel c.15_16del (p.P6Qfs*21) of the NEU1 gene as final causal candidate as compound heterozygotes.We reviewed the literature and selected the clinical reports of genetically confirmed type 1 sialidosis patients. A total of 45 patients in 17 reports were identified. Cherry-red spot, myoclonus, ataxia, and seizure were reported in 51.2%, 100.0%, 87.8%, and 73.7% of patients, respectively. Abnormalities of cognitive function, EEG, and brainMRI and visual symptoms were reported in 22.2%, 40.7%, 66.7%, and 70.2% of patients, respectively. Overall, our patient showed similar clinical features to previous type 1 sialidosis patients, but she did not complain of visual symptoms despite having cherry-red spots.We summarize the clinical features of type 1 sialidosis and report the first case of type 1 sialidosis with novel deletion variant in the NEU1 gene in the Korean population. Our study suggests the importance of ophthalmologic examinations in patients with myoclonus, ataxia, and seizure who do not complain of visual symptoms.

URI 

https://doi.org//10.1007/s12311-019-1005-2

ISSN 

1473-4222

Appears in Collections

1. Journal Articles > Journal Articles

Registered Date

2019-07-10


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