Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene

被引：0
|
作者：
Vykuntaraju K. Gowda
Varun M. Srinivasan
Naveen Benakappa
Asha Benakappa
机构：
[1] Indira Gandhi Institute of Child Health,Department of Pediatrics
[2] Bangalore Child Neurology and Rehabilitation Center,undefined
来源：
The Indian Journal of Pediatrics | 2017年 / 84卷
关键词：
Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
A patient with Sialidosis type 1 with a novel variation in neuraminidase-1 (NEU1) is described. The patient developed ataxia and myoclonus at 9 y of age. He was born to a second degree consanguineous marriage couple. On examination child had cerebellar signs and bilateral macular cherry-red spots. MRI of the brain and electroencephalogram were normal. The enzyme analysis revealed deficiency of neuraminidase. Genetic analysis identified novel homozygous missense mutation c.742G > T (p.G248C) in exon 4 of NEU1 gene. At 13 y of age, the ataxia and had myoclonus progressed.
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页码：403 / 404
页数：1
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