Literature DB >> 28138907

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

Vykuntaraju K Gowda1,2, Varun M Srinivasan3, Naveen Benakappa3, Asha Benakappa3.   

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.

Entities:  

Keywords:  Ataxia; Cherry-red spot; Myoclonus; Neuraminidase; Sialidosis

Mesh：

Substances：

Year:  2017        PMID： 28138907     DOI： 10.1007/s12098-016-2286-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  6 in total

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Journal:  Hum Mutat       Date:  2003-11       Impact factor: 4.878

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Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

5.  Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

Authors:  Alessandra d'Azzo; Eda Machado; Ida Annunziata
Journal:  Expert Opin Orphan Drugs       Date:  2015-04-13       Impact factor: 0.694

6.  Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.

Authors:  Prajnya Ranganath; Vishakha Sharma; Sumita Danda; Madhusudan R Nandineni; Ashwin B Dalal
Journal:  Indian J Med Res       Date:  2012-12       Impact factor: 2.375
  6 in total
  5 in total

1.  Sialidosis Type 1: Giant SSEP and Novel Mutation.

Authors:  Sanjeev Kumar Bhoi; Menka Jha; Suprava Naik; Gyatri Devi Palo
Journal:  Indian J Pediatr       Date:  2019-04-02       Impact factor: 1.967

Review 2.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

Review 3.  A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

Authors:  Juan Darío Ortigoza-Escobar
Journal:  Front Neurol       Date:  2020-11-13       Impact factor: 4.003

4.  Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Authors:  Xiaoxu Han; Shijing Wu; Min Wang; Hui Li; Yan Huang; Ruifang Sui
Journal:  Mol Genet Genomic Med       Date:  2020-05-26       Impact factor: 2.183

5.  Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.

Authors:  Lan-Xiao Cao; Ying Liu; Zhao-Jun Song; Bao-Rong Zhang; Wen-Ying Long; Guo-Hua Zhao
Journal:  World J Clin Cases       Date:  2021-01-26       Impact factor: 1.337
  5 in total

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