Familial encephalopathy with neuroserpin inclusion bodies

General Information (adopted from Orphanet):

Synonyms, Signs: ENCEPHALOPATHY, FAMILIAL, WITH COLLINS BODIES
FENIB
Number of Symptoms 22
OrphanetNr: 85110
OMIM Id: 604218
ICD-10: G31.8
UMLs: C1858680
MeSH: C536841
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 5 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Progressive myoclonic epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus 555 / 7739
2
 (HPO:0000651) Diplopia 37 / 7739
3
 (HPO:0000726) Dementia 131 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
7
 (HPO:0001298) Encephalopathy 72 / 7739
8
 (HPO:0001268) Mental deterioration 88 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0002936) Distal sensory impairment 96 / 7739
11
 (HPO:0002071) Abnormality of extrapyramidal motor function 76 / 7739
12
 (OMIM) Impaired visuospatial skills 1 / 7739
13
 (OMIM) Impaired concentration 1 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Impaired memory 2 / 7739
16
 (OMIM) Accumulation of PAS-positive diastase-resistant neuronal inclusion bodies in the cerebral cortex (Collins bodies) 1 / 7739
17
 (OMIM) Neuronal inclusion bodies stain for neuroserpin 1 / 7739
18
 (OMIM) Distal sensory impairment, mild (in some patients) 4 / 7739
19
 (MedDRA:10071299) Slow speech 2 / 7739
20
 (HPO:0002059) Cerebral atrophy 171 / 7739
21
 (HPO:0002171) Gliosis 48 / 7739
22
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Davis et al. (1999) described familial encephalopathy with neuroserpin inclusion bodies (FENIB), an autosomal dominant form of dementia, characterized histologically by unique neuronal inclusion bodies, and biochemically by polymers of the neuron-specific serpin, neuroserpin. The authors reported 2 ...
Molecular genetics OMIM In affected members of 2 unrelated families with FENIB, Davis et al. (1999) identified 2 different heterozygous mutations in the PI12 gene (S49P; 602445.0001 and S52R; 602445.0002, respectively).

Davis et al. (2002) identified 2 different heterozygous ...