Familial encephalopathy with neuroserpin inclusion bodies

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).

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Last updated: 11/1/2019

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