title: Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
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.
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India. drknvraju@hotmail.com.|Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India. drknvraju@hotmail.com.
authors.forename: Vykuntaraju K
authors.initials: VK
authors.lastname: Gowda
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
authors.forename: Varun M
authors.initials: VM
authors.lastname: Srinivasan
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
authors.forename: Naveen
authors.initials: N
authors.lastname: Benakappa
authors.affiliation: Department of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
authors.forename: Asha
authors.initials: A
authors.lastname: Benakappa
mesh_terms: D002648:Child; D003241:Consanguinity; D006720:Homozygote; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009439:Neuraminidase / Q000235:genetics*
chemical_list: C486385:NEU1 protein, human; D009439:Neuraminidase
keywords: Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis