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KMID : 1197720210140010065
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대한파킨슨병 및 이상운동질환 학회지
2021 Volume.14 No. 1 p.65 ~ p.69
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Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?
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Neeraja Koti
Holla Vikram Venkappayya
Prasad Shweta
Surisetti Bharath Kumar
Rakesh Kempaiah
Kamble Nitish
Yadav Ravi
Pal Pramod Kumar
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Abstract
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Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of genetically confirmed sialidosis type I with a typical presentation of progressive cortical myoclonus and ataxia but without the CRS. A previously reported homozygous pathogenic variant p.Arg294Cys was detected in the first case, and a novel homozygous pathogenic variant p.Arg305Pro was detected in the second case. Additionally, we reviewed the literature describing cases with similar mutations to find a genetic basis for the absence of a CRS. Milder mutation of both alleles detected in both patients may be the reason for the absence of a CRS.
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KEYWORD
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Ataxia, Cherry red spot, Mild mutation, Myoclonus, Sialidosis type I
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