Gowda, V.K., Srinivasan, V.M., Benakappa, N. et al. Indian J Pediatr (2017). doi:10.1007/s12098-016-2286-9
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.