Sialidosis

A form of progressive myoclonic epilepsy

Type 1:

Clinical features:

Adolescence, severe myoclonus, gradual visual loss, ataxia
Cherry-red spot
No dementia

Genetics:

Autosomal recessive
Chr. 20

Pathology:

Decreased neuraminidase
 

Type 2:

Clinical features:

adolescence, severe myoclonus, gradual visual loss, ataxia
Cherry-red spot
No dementia
Coarse facies, corneal clouding

Genetics:

Autosomal recessive,
Chr. 10

Pathology:

Decreased neuraminidase & beta-galactosidase

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