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Updated: Mar 8, 2026

Detection of Neu1 Sialidase Activity in Regulating TOLL-like Receptor Activation
Published on: September 7, 2010
Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
Vykuntaraju K Gowda1,2, Varun M Srinivasan3, Naveen Benakappa3
1Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. drknvraju@hotmail.com.
Abstract:
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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