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Familial encephalopathy with neuroserpin inclusion bodies

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Disease definition

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).

ORPHA:85110

Classification level: Disorder

Synonym(s):
  • FENIB

Prevalence: <1 / 1 000 000

Inheritance: Autosomal dominant

Age of onset: Adolescent, Adult, Childhood

ICD-10: G31.8

ICD-11: 8A61.41

OMIM: 604218

UMLS: C1858680

MeSH: C536841

GARD: 10037

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Español (2023) - Asociación Nacional de Personas con Epilepsia-ANPE
Guidelines
Emergency guidelines
Français (2013.pdf) - Orphanet Urgences
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.