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Gene: NEU1

Green List (high evidence)

Condition results in a progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase.
Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is the less severe form of this condition, onset in teens or twenties. Initial symptoms include gait disturbance and reduced visual acuity). Other symptoms include myoclonus, ataxia, leg tremors, seizures and progressive vision problems, including impaired color vision or night blindness. Cherry-red spot is characteristic of this disorder. Sialidosis type I does not affect intelligence or life expectancy.
Sialidosis type II is more severe and is further divided into congenital, infantile, and juvenile forms. Congenital form, features often seen before birth, are stillborn or die soon after birth. Infantile form, symptoms start to develop in first year, may survive into childhood or adolescence. Juvenile form begins late childhood, can be variable.
There is a close correlation between the residual activity of the mutant enzymes and the clinical severity of disease (PMID: 11063730).

Created: 29 Dec 2024, 11:38 p.m. | Last Modified: 29 Dec 2024, 11:38 p.m.

Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis, type I, MIM #256550; Sialidosis, type II, MIM #256550

Publications

• PMID: 11063730
• 8985184
• 9054950
• 39194692