Familial encephalopathy with neuroserpin inclusion bodies
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Familial encephalopathy with neuroserpin inclusion bodies?
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