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01-05-2017 | Clinical Brief

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

Authors: Vykuntaraju K. Gowda, Varun M. Srinivasan, Naveen Benakappa, Asha Benakappa

Published in: Indian Journal of Pediatrics | Issue 5/2017

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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Title: Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
Authors: Vykuntaraju K. Gowda
Varun M. Srinivasan
Naveen Benakappa
Asha Benakappa
Publication date: 01-05-2017
Publisher: Springer India
Published in: Indian Journal of Pediatrics / Issue 5/2017
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-016-2286-9

At a glance: The STEP trials

Springer Medicine

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

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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