Sialidosis I and II are inherited syndromes associated with a deficiency of lysosomal sialidase. Sialidase deficiency leads to defective lysosomal catabolism of sialoglycoconjugates with their subsequent accumulations in tissues and excessive excretion in the urine. Clinically, Sialidosis is characterized by myoclonus and a progressive course.
Authors
Igdoura S
Book title
Encyclopedia of Movement Disorders Three Volume Set