Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Sialidosis Type I without a Cherry Red Spot— Is There a Genetic Basis?

Sialidosis is an inborn error of metabolism due to a defect in the NEU1 gene and manifests as two phenotypes: mild type I and severe type II. The cherry red spot (CRS) is a characteristic feature in both types of sialidosis; reports of sialidosis without a CRS are rare. We report two cases of geneti...

Full description

Bibliographic Details
Main Authors: Koti Neeraja, Vikram Venkappayya Holla, Shweta Prasad, Bharath Kumar Surisetti, Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Format: Article
Language:English
Published: Korean Movement Disorder Society 2021-01-01
Series:Journal of Movement Disorders
Subjects:
ataxia
cherry red spot
mild mutation
myoclonus
sialidosis type i
Online Access:http://www.e-jmd.org/upload/jmd-20083.pdf

Internet

http://www.e-jmd.org/upload/jmd-20083.pdf

Similar Items