Fatal familial insomnia

General Information (adopted from Orphanet):

Synonyms, Signs: INSOMNIA, FATAL FAMILIAL
FFI
Number of Symptoms 25
OrphanetNr: 466
OMIM Id: 600072
ICD-10: A81.8
UMLs: C0206042
MeSH: D034062
MedDRA:
Snomed: 83157008

Prevalence, inheritance and age of onset:

Prevalence: 27 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic dementia
 -Rare genetic disease
Inherited prion disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000016) Urinary retention 7 / 7739
2
(HPO:0000651) Diplopia 37 / 7739
3
(HPO:0002459) Dysautonomia 34 / 7739
4
(HPO:0001260) Dysarthria 329 / 7739
5
(HPO:0001336) Myoclonus 115 / 7739
6
(HPO:0002015) Dysphagia 301 / 7739
7
(HPO:0000726) Dementia 131 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0100785) Insomnia 18 / 7739
10
(HPO:0002019) Constipation 194 / 7739
11
(HPO:0001824) Weight loss 42 / 7739
12
(HPO:0000975) Hyperhidrosis 64 / 7739
13
(HPO:0001945) Fever 218 / 7739
14
(HPO:0002104) Apnea 106 / 7739
15
(HPO:0011463) Childhood onset 65 / 7739
16
(OMIM) Brainstem may show neuronal loss 1 / 7739
17
(OMIM) Thalamic neuronal loss, especially in the medial dorsal nucleus 1 / 7739
18
(OMIM) Insomnia, refractory 1 / 7739
19
(OMIM) Somniloquism 1 / 7739
20
(OMIM) Diplopia, intermittent 1 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
23
(OMIM) Dream enactment 1 / 7739
24
(HPO:0003581) Adult onset 117 / 7739
25
(OMIM) Sleep impairment, progressive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fatal familial insomnia is a prion disorder showing autosomal dominant inheritance. It is clinically characterized by insomnia with or without a diurnal dreaming state, hallucinations, delirium, and dysautonomia preceding motor and cognitive deterioration. FFI is specifically associated with ...
Clinical Description OMIM Lugaresi et al. (1986) reported a 53-year-old man who presented with progressive insomnia and signs of dysautonomia, including pyrexia, diaphoresis, myosis, and sphincter disturbances. Dreamlike status, dysarthria, tremor, and myoclonus subsequently developed and led to coma and death ...
Genotype-Phenotype Correlations OMIM In an analysis of 14 patients with FFI from 5 unrelated families, Montagna et al. (1998) found that patients who were homozygous for the met129 polymorphism had more prominent oneiric episodes, insomnia, and dysautonomia at disease onset, whereas ...
Molecular genetics OMIM Goldfarb et al. (1992) demonstrated that an asp178-to-asn (D178N) substitution in the PRNP gene in conjunction with the met129 polymorphism on the same allele (176640.0010) was responsible for FFI. Creutzfeldt-Jakob disease was associated with val129 in all 15 ...