Ser49pro

?

Neuroserpin

Autosomal dominant

Neuronal inclusion bodies (Collins bodies) in cortex

Progressive myoclonic epilepsy, tremor, dementia

Neuronal intranuclear inclusion disease (NIID) (309)

Unknown

?

Ataxin 1-3, polyglutamine

Sporadic

Eosinophilic hyaline intranuclear inclusions (ubiquitin) in brain and rectum

Dystonia, aculogyric crisis, pyramidal, cerebellar signs

Lafora body disease

EPM2A, NHLRC1

?

Laforin

Autosomal recessive

Multiple Lafora inclusions (PAS+, ubiquitin, polysaccharide) in CNS, heart, multiple organs

Progressive myoclonic epilepsy, psychoses, dementia

o CD cn

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