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  • Prion Disease

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Prion Disease

Aka: Prion Disease, Transmissible Spongiform Encephalopathy, Prion Protein Disease, Prion, Prion Protein, PrP Protein, Mad Cow Disease, Scrapie, Bovine Spongiform Encephalopathy, Fatal Familial Insomnia, Gerstmann-Straussler-Scheinker Disease, Kuru
  1. Epidemiology
    1. Worldwide: 1 to 1.5 cases per 1 Million per year
    2. U.S.: 1 to 1.2 cases per 1 Million per year (400/year)
  2. Definitions
    1. Prion Protein (PrP Protein)
      1. Prion related-proteins (PrP) are normal components of the cell
      2. Neurodegenerative disorders may occur when these normal PrP are converted to misfolded abnormal prions
      3. Prions are small infectious protein particles that are resistant to standard forms of inactivation
    2. Prion Disease
      1. Genetic, infectious and sporadic neuro-degenerative disorders (e.g. Dementia, Ataxia) associated with Prion Proteins
  3. Causes: Humans
    1. Sporadic (>80% of U.S. cases, all Sporadic CJD)
      1. Sporadic Creutzfeldt-Jakob Disease
    2. Genetic (mutations in prion-related protein gene or PRNP, 10-15% of U.S. cases)
      1. Genetic Creutzfeldt-Jakob Disease
      2. Gerstmann-Straussler-Scheinker Syndrome
        1. Slowly progressive Ataxia or Parkinsonism-like motor disorder with late onset Ataxia
        2. At least 12 mutations have been identified
        3. Onset at median age 50-60 years, but very young age onset may occur (typical range age 20 to 70)
        4. Testing including MRI, EEG and CSF biomarkers are typically non-diagnostic
      3. Fatal Familial Insomnia
        1. Very rare PRNP mutation D178N (cis codon 129M)
        2. Progressive Insomnia over months, autonomic instability (Tachycardia, Hyperhidrosis, fever)
        3. Dementia and motor deficits occur later in course
        4. Typical onset in late 40s and mean survival 18 months
    3. Acquired (rare, <1% of U.S. CJD cases)
      1. Variant Creutzfeldt-Jakob Disease
      2. Iatrogenic Creutzfeldt-Jakob Disease
      3. Kuru (limited to New Guinea tribe cannabils)
        1. https://en.wikipedia.org/wiki/Kuru_(disease)
  4. Causes: Animals
    1. Cow CJD (Bovine Spongiform Encephalopathy, Mad Cow Disease)
      1. Transmitted to cows by eating contaminated feed (cattle fed sheep brain)
      2. Transmission from animals to humans (typically Bovine Spongiform Encephalopathy or BSE)
        1. Peak in UK BSE cases (1988-2005) followed by tens of thousands of UK cases (1994-2009)
        2. Since 2012, vCJD cases have been rare
        3. https://en.wikipedia.org/wiki/United_Kingdom_BSE_outbreak
    2. Sheep CJD (Scrapie)
      1. Only transmitted to humans if passed via cattle
    3. Chronic Wasting Disease (CWD, deer and elk)
      1. Possible transmission to humans from exposure to neurologic tissue (butchering) or contaminated meat ingestion
  5. Pathophysiology
    1. Transmitted via Prion Protein infectious agents
      1. Prions are the only infectious agent to contain no nucleic acids
    2. Prions cause other proteins to precipitate
      1. Plaques of Prion Proteins form in brain
      2. Results in Spongiform encephalopathy
    3. Prions are very difficult to control
      1. Resistant to disinfectants and sterilization
      2. Environmental decay is very slow
        1. Persists in environment despite removing animals
    4. Transmission
      1. At least 80% of CJD cases are sporadic
      2. Humans may acquire CJD via surgical procedures, transfusions, and contaminated meats (esp. neuro tissue exposure)
        1. Prions travel via lymph
        2. Spreads to brain via Lymphocytes
        3. Disease may have a long latent period after exposure (from 2 to 40 years)
        4. However, once the onset of clinical disease, progression is typically rapid, and uniformly fatal
      3. Animals may spread some Prion Diseases to one another via Saliva (e.g. Scrapie)
        1. Maddison (2010) J Infect Dis 201(11):1672-6 +PMID:20402590 [PubMed]
        2. However this does not appear to be a factor in transmission of Creutzfeldt-Jakob Disease between humans
  6. References
    1. Belay (2001) Arch Neurol 58:1673-8 [PubMed]
    2. Brown (2000) Neurology 55(8):1075-81 [PubMed]
    3. Drisko (2002) J Am Coll Nutr 21(1):22-5 [PubMed]
    4. Geschwind (2015) Continuum 21(6): 1612-38 +PMID:26633779 [PubMed]

Gerstmann-Straussler-Scheinker Disease (C0017495)

Definition (MSHCZE) Gerstmannův-Sträusslerův-Scheinkerův syndrom zkr. GSS – vzácné, autozomálně-dominantní onemocnění řazené k spongiformním encefalopatiím postihujícím člověka, spojované rovněž s priony či pomalými viry. Je charakterizováno poruchami mozečku, pyramidovými i extrapyramidovými a bulbárními příznaky, demencí. Srov. Creutzfeldtova-Jakobova nemoc. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
Definition (MSH) An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Concepts Disease or Syndrome (T047)
MSH D016098
ICD9 046.71
ICD10 A81.82
SnomedCT 67155006
English Gerstmann Straussler Scheinker Disease, Gerstmann Straussler Syndrome, Gerstmann-Straussler Syndrome, Gerst-Straussl-Scheinker syndr, CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS, GSD, PRION DEMENTIA, AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY, GERSTMANN-STRAUSSLER-SCHEINKER DISEASE, GERSTMANN-STRAUSSLER DISEASE, ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE, Gerstmann-Straussler-Scheinker Disease, GERSTMANN STRAUSSLER SCHEINKER DIS, INHERITED SPONGIFORM ENCEPH GERSTMANN STRAUSSLER, GERSTMANN STRAUSSLER INHERITED SPONGIFORM ENCEPH, GSS-Gerst-Strauss-Scheink synd, Gerstmann Straussler syndrome, Gerstmann-Straussler-Scheinker syndrome (diagnosis), Gerstmann-Straussler Inherited Spongiform Encephalopathy, Inherited Spongiform Encephalopathy, Gerstmann-Straussler, Gerstmn-Straus-Schnk syn, Gerstmann Straussler Scheinker Syndrome, Gerstmann-Straussler-Scheinker Syndrome, Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type, Gerstmann-Sträussler-Scheinker syndrome, GSS syndrome, Gerstmann-Straussler-Scheinker Disease [Disease/Finding], Inherited Spongiform Encephalopathy, Gerstmann Straussler, Gerstmann Straussler Inherited Spongiform Encephalopathy, Gerstmann Straussler Scheinker syndrome, Gerstmann-Straeussler-Scheinker syndrome, Gerstmann-Straussler Diseases, Gerstmann Straussler Disease, Diseases, Gerstmann-Straussler, Gerstmann-Straussler Disease, Disease, Gerstmann-Straussler, GSS, Gerstmann-Straussler-Scheinker syndrome, GSS - Gerstmann-Straussler-Scheinker syndrome, Gerstmann-Straussler-Scheinker syndrome (disorder)
French Encéphalopathie spongiforme subaigüe type Gerstmann-Straussler, Syndrome de Gerstmann-Straussler-Scheinker, Syndrome de Gerstmann-Straeussler-Scheinker, Encéphalopathie spongiforme subaiguë type Gerstmann-Straussler, Syndrome de Gerstmann-Sträussler-Scheinker, Syndrome de Gerstmann-Sträussler
Swedish Gerstmann-Straussler-Scheinkers sjukdom
Czech Gerstmannova-Strausslerova-Scheinkerova nemoc, Gerstmannův-Sträusslerův syndrom, Gerstmann-Straussler-Scheinkerův syndrom, Gerstmann Straussler Scheinker syndrom
Finnish Gerstmann-Straussler-Scheinkerin oireyhtymä
Russian GERSTMANNA-STRAUSSLERA SINDROM, GERSTMANNA-STRAUSSLERA-SHEINDERA BOLEZN', GERSTMANNA-SHTREUSSLERA SINDROM, GERSTMANNA-STRAUSSLERA-SHEINKERA BOLEZN', ГЕРСТМАННА-СТРАУССЛЕРА СИНДРОМ, ГЕРСТМАННА-СТРАУССЛЕРА-ШЕЙНДЕРА БОЛЕЗНЬ, ГЕРСТМАННА-СТРАУССЛЕРА-ШЕЙНКЕРА БОЛЕЗНЬ, ГЕРСТМАННА-ШТРЕУССЛЕРА СИНДРОМ
Polish Choroba Gerstmanna-Strausslera-Scheinkera, GSS, Zespół Gerstmanna-Strausslera
Japanese Gerstmann-Straussler症候群, Gerstmann-Straussler-Scheinker症候群, ゲルストマン・シュトロイスラー・シャインカー症候群, ゲルストマンシュトロイスラーシャインカーショウコウグン, Gerstmann-Straussler-Scheinker病, ゲルストマン-シュトロイスラー-シェンカー症候群, ゲルストマン-シュトロイスラー症候群
Dutch Gerstmann-Straussler-Scheinker-syndroom, Gerstmann-Sträussler-Schenker-syndroom, Syndroom, Gerstmann-Sträussler-Schenker-
German Gerstmann-Straeussler-Scheinker-Syndrom, Gerstmann-Sträussler-Scheinker-Krankheit, Gerstmann-Sträussler-Syndrom
Hungarian Gerstmann-Sträussler-Scheinker-syndroma, Gerstmann-Straussler-Scheinker-syndroma
Italian Sindrome di Gerstmann-Straussler-Scheinker, Sindrome di Gerstmann-Straeussler-Scheinker, Malattia di Gerstmann-Straussler-Scheinker
Spanish Síndrome de Gerstmann-Straussler-Scheinker, Síndrome de Gerstmann-Straussler, Enfermedad de Gerstmann-Straussler, síndrome de Gerstmann - Straussler - Scheinker (trastorno), síndrome de Gerstmann - Straussler - Scheinker, Enfermedad de Gerstmann-Straussler-Scheinker
Portuguese Síndrome de Gerstmann Straussler Scheinker, Síndrome de Gerstmann-Straeussler-Scheinker, Doença de Gerstmann-Straussler, Doença de Gerstmann-Straussler-Scheinker, Síndrome de Gerstmann-Straussler
Norwegian Gerstmann-Sträussler-Scheinkers syndrom
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Kuru (C0022802)

Definition (MSHCZE) Nervové onemocnění vyskytující se v oblasti Nové Guineje. Předpokládá se, že infekční činitel (prion) je přenášen kanibalismem (rituální pojídání mozku mrtvých). Vývoj choroby trvá až několik let, (dř. „pomalá viróza“) a vede k smrti. Morfologicky jsou změny na mozečku a v oblasti šedé hmoty kůry a míchy. Klinicky je patrný třes, mozečkové a extrapyramidové příznaky apod. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (MSH) A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)
Concepts Disease or Syndrome (T047)
MSH D007729
ICD9 046.0
ICD10 A81.81
SnomedCT 192684001, 86188000
English Kuru, ENCEPH KURU, KURU ENCEPH, kuru, kuru (diagnosis), Kuru agent infection, Encephalopathy, Kuru, Kuru Encephalopathy, Kuru [Disease/Finding], Kuru encephalitis, Kuru (disorder), disease (or disorder); kuru, kuru; disease
Dutch koeroe-agensinfectie, aandoening; kuru, kuru; aandoening, koeroe, Kuru, Kuru-encefalopathie
French Infection par l'agent du Kuru, Kuru
German Kuru-Agens-Krankheit, Kuru, Kuruenzephalopathie
Italian Infezione da agente del Kuru, Encefalopatia kuru, Kuru
Portuguese Infecção pelo agente do kuru, Kuru, Encefalopatia Kuru
Spanish Infección por el agente del kuru, kuru (trastorno), kuru, Kuru, Encefalopatía Kuru
Japanese クールー因子感染, クールービョウ, クールーインシカンセン, クールー, クールー病, クル
Swedish Kuru
Czech kuru, Kuru, Infekce původcem onemocnění kuru
Finnish Kuru
Russian KURU, КУРУ
Croatian KURU, ENCEFALOPATIJA, KURU
Polish Kuru
Hungarian kuru, Kuru-szerű fertőzés
Norwegian Kuru
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Prions (C0033164)

Definition (MSH) Small proteinaceous infectious particles which resist inactivation by procedures that modify NUCLEIC ACIDS and contain an abnormal isoform of a cellular protein which is a major and necessary component. The abnormal (scrapie) isoform is PrPSc (PRPSC PROTEINS) and the cellular isoform PrPC (PRPC PROTEINS). The primary amino acid sequence of the two isoforms is identical. Human diseases caused by prions include CREUTZFELDT-JAKOB SYNDROME; GERSTMANN-STRAUSSLER SYNDROME; and INSOMNIA, FATAL FAMILIAL.
Definition (CSP) small proteinaceous infectious particle that lacks nucleic acids; pathogen of animals, and apparently man.
Concepts Amino Acid, Peptide, or Protein (T116)
MSH D011328
SnomedCT 84676004
LNC LP19935-3
English Prion Proteins, PrP Proteins, Prions, Prions [Chemical/Ingredient], prion proteins, prion, prion protein, prions, Pr P, Prion, Prion protein, Proteinaceous infectious particle, Prion (organism), Prion, NOS
Swedish Prioner
Czech priony, proteiny PrP
Finnish Prionit
Russian ENTSEFALOPATII NORKI VIRUS, SKREPI VIRUS, PRIONNYE BELKI, PRIONY, RAIDA VIRUS, ПРИОННЫЕ БЕЛКИ, ПРИОНЫ, РАЙДА ВИРУС, СКРЕПИ ВИРУС, ЭНЦЕФАЛОПАТИИ НОРКИ ВИРУС
Japanese プリオン蛋白質, プリオン蛋白, ミンク脳症ウイルス, 伝染性ミンク脳症ウイルス, PRP蛋白質, プリオン
Italian Proteine PrP, Prioni
Polish Priony
Portuguese Proteínas Priônicas, Vírus da Encefalopatia do Visão, Príons, Proteínas PrP
French Protéines PrP, Protéines prions, Prions
Spanish partícula infecciosa proteinácea, prión (organismo), prión, proteína de prión, Priones, Proteínas PrP
German PrP-Proteine, Prionenproteine, Prionen
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Scrapie (C0036457)

Definition (MSHCZE) svrbivka ovcí a koz; druh přenosné spongiformní encefalopatie vyvolané priony. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (MSH) A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS.
Definition (CSP) fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination, caused by proteinaceous infectious particles called prions.
Concepts Disease or Syndrome (T047)
MSH D012608
SnomedCT 35103004, 340201000009104
English Rida, Scrapie, Scrapie [Disease/Finding], rida, scrapie, Scrapie (disorder)
Swedish Skrapie
Czech scrapie, svědivka, klusavka ovcí, skrapie
Finnish Skrapi
Russian RIDA, SKREPI, РИДА, СКРЕПИ
Italian Rida, Scrapie
French Encéphalopathie spongiforme ovine, Tremblante, Scrapie
Polish Scrapie, Drżączka porażenna owiec
Japanese スクレイピー, スクラピー, スクレピー
Norwegian Skrapesyke, Overførbar spongiform encefalopati hos sau og geit
Spanish scrapie, scrapie (trastorno), Rida, Scrapie
German Rida, Scrapie, Traberkrankheit
Dutch Scrapie
Portuguese Rida, Scrapie
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Encephalopathy, Bovine Spongiform (C0085209)

Definition (MSHCZE) Nervové onemocnění hovězího dobytka (nemoc „šílených krav") charakteru pomalé virózy, resp. onemocnění způsobené priony. Epidemický výskyt byl zaznamenán zejm. ve Velké Británii, příčinou může být zkrmování nedostatečně sterilizované masokostní moučky obsahující materiály z ovcí nakažených scrapií. K přenosu na člověka s následným vznikem Creutzfeldtovy-Jacobovy nemoci dochází pravděpodobně konzumací mozku a vnitřností nakažených zvířat. První případy jsou již známy i z České republiky. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (MSH) A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)
Concepts Disease or Syndrome (T047)
MSH D016643
SnomedCT 52869003, 343461000009107
English Bovine Spongiform Encephalopathy, Encephalopathy, Bovine Spongiform, Spongiform Encephalopathy, Bovine, Mad Cow Disease, BSE BOVINE SPONGIFORM ENCEPH, ENCEPH BOVINE SPONGIFORM, BOVINE SPONGIFORM ENCEPH, SPONGIFORM ENCEPH BOVINE, MAD COW DIS, BSE (Bovine Spongiform Encephalopathy), Bovine Spongiform Encephalitis, Encephalitis, Bovine Spongiform, Mad Cow Diseases, Encephalopathy, Bovine Spongiform [Disease/Finding], bovine spongiform encephalopathy (BSE), mad cow disease, bse, bovine spongiform encephalopathy, bovine spongiform encephalitis, BSEs (Bovine Spongiform Encephalopathy), BSE, Bovine spongiform encephalopathy (disorder), Mad cow disease, Bovine spongiform encephalopathy
Swedish Galna ko-sjuka
Czech nemoc šílených krav, encefalopatie bovinní spongioformní, bovinní spongioformní encefalopatie
Finnish Hullun lehmän tauti
Italian Malattia della mucca pazza, Encefalite spongiforme bovina, BSE (encefalopatia spongiforme bovina), Encefalopatia spongiforme bovina
Russian ENTSEFALOPATIIA BYCH'IA SPONGIFORMNAIA, BYCH'IA SPONGIFORMNAIA ENTSEFALOPATIIA, БЫЧЬЯ СПОНГИФОРМНАЯ ЭНЦЕФАЛОПАТИЯ, ЭНЦЕФАЛОПАТИЯ БЫЧЬЯ СПОНГИФОРМНАЯ
Japanese ウシ海綿状脳症, ウシ海綿様脳症, ウシ海綿状脳障害, 牛海綿状脳障害, 狂牛病, 海綿様脳症-ウシ, 海綿様脳症-牛, 海綿状脳症-ウシ, 海綿状脳症-牛, 海綿状脳障害-牛, 牛海綿様脳症, 牛海綿状脳症, 脳障害-ウシ海綿状, 脳障害-牛海綿状
Polish Choroba szalonych krów, BSE, Encefalopatia gąbczasta bydła
Norwegian Bovin spongiform encefalitt, Overførbar spongiform encefalopati hos ku, Bovin svampliknende encefalopati, Bovin spongiform encefalopati, Kugalskap
Spanish encefalopatía espongiforme vacuna, encefalopatía espongiforme vacuna (trastorno), encefalopatía espongiforme bovina, enfermedad de la vaca loca, Encefalopatía Espongiforme Bovina, Enfermedad de la Vaca Loca
German BSE, Bovine spongiforme Enzephalopathie, Enzephalopathie, bovine spongiforme, Rinderwahnsinn, Spongiforme Enzephalopathie, bovine
Dutch Boviene spongiforme encefalopathie, Boviene spongiforme encefalopathie (BSE), Encefalopathie, boviene spongiforme, Gekkekoeienziekte, Spongiforme encefalopathie, boviene
Portuguese Doença da Vaca Louca, Encefalopatia Espongiforme Bovina
French Encéphalopathie bovine spongiforme, Encéphalopathie spongiforme bovine, ESB (Encéphalopathie spongiforme bovine), Maladie de la vache folle
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Prion Diseases (C0162534)

Definition (CSP) any of various brain diseases in humans and animals in which areas of the brain slowly degenerate and take on a spongy appearance.
Definition (MSH) A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83)
Concepts Disease or Syndrome (T047)
MSH D017096
ICD10 A81.9
SnomedCT 193172009, 230284004, 20484008
LNC LP173528-3, MTHU046519
English Dementias, Transmissible, Spongiform Encephalopathies, Transmissible, Transmissible Dementias, Dementia, Transmissible, Encephalopathies, Transmissible Spongiform, Encephalopathy, Transmissible Spongiform, Spongiform Encephalopathy, Transmissible, Transmissible Dementia, Transmissible Spongiform Encephalopathies, Transmissible Spongiform Encephalopathy, spongiform encephalopathy, Prion protein disease, DEMENTIAS TRANSM, PRION IND DIS, PRION PROTEIN DIS, ENCEPH SPONGIFORM TRANSM, SPONGIFORM ENCEPH TRANSM, TRANSM SPONGIFORM ENCEPH, PRION DIS, TRANSM DEMENTIAS, prion induced disorder, prion disease, prion disease (diagnosis), prion disease of central nervous system, Prion Protein Disease, Prion Protein Diseases, Disorder, Prion-Induced, Disorders, Prion-Induced, Prion Induced Disorder, Prion-Induced Disorder, Encephalopathies, Spongiform, Transmissible, Prion diseases of the central nervous system NOS, Prion Diseases [Disease/Finding], diseases prion, prion diseases, encephalopathies spongiform, disease prion, disease prions, diseases prions, Prion-associated disorders, Prion Diseases, Prion Disease, Prion-Induced Disorders, Prion-Associated Disorders, Transmissible spongiform encephalopathy, Prion diseases, Spongiform encephalopathy, Prion disease (disorder), Prion disease, Spongiform encephalopathy (disorder), encephalopathy; spongiform, spongiform; encephalopathy, Prion disease, NOS, Spongiform Encephalopathy
Italian Patologie associate a prioni, Demenze trasmissibili, Malattie indotte da prioni, Encefalopatie spongiformi trasmissibili, Malattie da prioni
Japanese プリオン関連障害, プリオンカンレンショウガイ, 伝播性海綿状脳症, 海綿状脳症-伝播性, 脳症-海綿様, 海綿様脳症, 伝染性海綿様脳症, 伝染性痴呆, 痴呆-伝染性, 伝播しうる痴呆, 海綿状脳症, 海綿様脳症-伝染性, 伝播性痴呆, 脳症-海綿状, プリオン病, Prion病
Swedish Prionsjukdomar
Czech nespavost fatální familiární, spongiformní encefalopatie přenosné, demence přenosné, prionové nemoci, Onemocnění způsobená priony, prionová onemocnění, prionové onemocnění, přenosné spongiformní encefalopatie, prionové choroby
Finnish Prionisairaudet
Russian ENTSEFALOPATII, VYZVANNYE GUBKOOBRAZNYMI, GUBKOOBRAZNYMI VYZVANNYE ENTSEFALOPATII PEREDAIUSHCHIESIA, DEMENTSII TRANSMISSIVNYE, SLABOUMIE PEREDAIUSHCHEESIA, PRIONNYE BOLEZNI, PEREDAIUSHCHEESIA SLABOUMIE, TRANSMISSIVNYE DEMENTSII, PRIONAMI VYZVANNYE BOLEZNI, ГУБКООБРАЗНЫМИ ВЫЗВАННЫЕ ЭНЦЕФАЛОПАТИИ ПЕРЕДАЮЩИЕСЯ, ДЕМЕНЦИИ ТРАНСМИССИВНЫЕ, ПЕРЕДАЮЩЕЕСЯ СЛАБОУМИЕ, ПРИОНАМИ ВЫЗВАННЫЕ БОЛЕЗНИ, ПРИОННЫЕ БОЛЕЗНИ, СЛАБОУМИЕ ПЕРЕДАЮЩЕЕСЯ, ТРАНСМИССИВНЫЕ ДЕМЕНЦИИ, ЭНЦЕФАЛОПАТИИ, ВЫЗВАННЫЕ ГУБКООБРАЗНЫМИ
Croatian Not Translated[Prion Diseases]
Polish Choroby mózgu gąbczaste, Choroby prionowe, Encefalopatie gąbczaste pasażowalne
Hungarian Prion-hoz kapcsolódó betegségek
Norwegian Overførbare spongiforme encefalopatier, Overførbare svampliknende encefalopatier, Demens fra overførbart agens, Overført demens, Prionproteinsykdommer, Prionforårsaket sykdom, Prionutløst sykdom, Prionsykdommer
Dutch encefalopathie; spongiform, spongiform; encefalopathie, priongeassocieerde aandoeningen, Dementie, overdraagbare, Overdraagbare dementie, Prionziekte, Prionziekten, Spongiforme encefalopathie, overdraagbare, Ziekte, prion-, Ziekten, prion-
Spanish encefalopatía espongiforme (trastorno), encefalopatía espongiforme, enfermedad por priones (trastorno), enfermedad por priones, Enfermedades asociadas a los priones, Demencias Transmisibles, Encefalopatías Espongiformes Transmisibles, Enfermedades por Prión
Portuguese Infecções associadas a prião, Demências Transmissíveis, Doenças de Príon, Encefalopatias Transmissíveis Espongiformes
French Troubles associés aux prions, Maladies à prion, Démences transmissibles, Encéphalopathies spongiformes transmissibles, Maladies à prions, EST (Encéphalopathie Spongiforme Transmissible)
German Prionen-bedingte Erkrankungen, Prionenkrankheiten, Demenzen, übertragbare, Enzephalopathien, spongiforme, übertragbare, Spongiforme Enzephalopathien, übertragbare, Übertragbare Demenzen
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Fatal Familial Insomnia (C0206042)

Definition (MSHCZE) Fatální familiární insomnie zkr. FFI – onemocnění řazené k spongiformním encefalopatiím postihujícím člověka. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A very rare autosomal dominant inherited sleep disorder caused by a mutation in the gene responsible for the prion protein. It affects individuals usually in their fourth decade. Its initial manifestation is difficulty in falling asleep. It is followed by complete inability to sleep. Patients develop deterioration of their mental and motor functions and die soon after the first symptoms appear, because of the total absence of sleep.
Definition (MSH) An autosomal dominant disorder characterized by degeneration of the THALAMUS and progressive insomnia. It is caused by a mutation in the prion protein (PRIONS).
Concepts Disease or Syndrome (T047)
MSH D034062
ICD9 046.72
ICD10 A81.83
SnomedCT 83157008
English Insomnia, Fatal Familial, Fatal Familial Insomnias, Insomnias, Fatal Familial, FATAL FAMILIAL INSOMNIA, INSOMNIA, FATAL FAMILIAL, FFI, fatal familial insomnia, fatal familial insomnia (diagnosis), Fatal Familial Insomnia, Insomnia, Fatal Familial [Disease/Finding], Fatal, Insomnia Familial, Fatals, Insomnia Familial, Familial Fatal Insomnias, Fatal Insomnias, Familial, Familial Fatal, Insomnia, Familial Fatal Insomnia, Insomnia Familial Fatal, Insomnia, Familial Fatal, Fatal Insomnia, Familial, Insomnias, Familial Fatal, Familial Fatals, Insomnia, Insomnia Familial Fatals, insomnia fatal familial, familial fatal insomnia, Fatal familial insomnia, FFI - Familial fatal insomnia, Familial fatal insomnia, Fatal familial insomnia (disorder)
Swedish Insomnia, fatal familjär
Czech insomnie fatální familiární, Fatal familial insomnia, fatální familiární insomnie
Finnish Suvuittainen kuolemaan johtava unettomuus
Russian BESSONNITSA SEMEINAIA FATAL'NAIA, БЕССОННИЦА СЕМЕЙНАЯ ФАТАЛЬНАЯ
Polish Bezsenność śmiertelna rodzinna
Japanese 不眠症-致死性家族性, 致死性家族性不眠症, チシセイカゾクセイフミンショウ
Dutch fatale familiaire insomnie, Fatale familiaire insomnia, Insomnia, fatale familiaire
German Letale familiaere Insomnie, Insomnie, letale familiäre, Letale familiäre Insomnie, Schlaflosigkeit, letale familiäre
Hungarian Fatalis familiaris insomnia
Italian Insonnia fatale familiare, Insonnia fatale a carattere di familiarità
Spanish Insomnio familiar fatal, insomnio familiar mortal (trastorno), insomnio familiar mortal, Insomnio Familiar Fatal, Insomnio Fatal Familiar
Portuguese Insónia familiar fatal, Insônia Familiar Fatal, Insônia Fatal Familiar
Norwegian Fatal familiær insomni, Familiær fatal insomni, Fatal familiær insomnia, Familiær fatal insomnia
French IFF (Insomnie Familiale Fatale), Insomnie fatale familiale, Insomnie familiale fatale
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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