Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene
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.
KeywordsAtaxia Cherry-red spot Myoclonus Neuraminidase Sialidosis
VMS: Diagnosis, management and writing the manuscript; NB: Conducted laboratory tests and analyzed the data; AB: Supervision of the work and revision of manuscript; VKG: Revised and approved the manuscript for important intellectual content and will act as guarantor of the paper.
Compliance with Ethical Standards
Conflict of Interest
Source of Funding
- 5.d’Azzo A, Machado E, Annunziata I. Pathogenesis, emerging therapeutic targets and treatment in sialidosis. Expert Opin Orphan Drugs. 2015;3:491–504.Google Scholar