{"orpha":356,"name":"Gerstmann-Straussler-Scheinker syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Subacute spongiform encephalopathy, Gerstmann-Straussler type"],"definition":"A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-356/","orphanet_url":"https://www.orpha.net/en/disease/detail/356","names":{"fr":{"name":"Syndrome de Gerstmann-Straussler-Scheinker","synonyms":["Encéphalopathie spongiforme subaiguë type Gerstmann-Straussler"],"definition":"Maladie à prion humaine héréditaire rare caractérisée par l'apparition, à l'âge adulte, d'une ataxie cérébelleuse à progression lente, ainsi que par une démence à un stade relativement tardif (phénotype d'ataxie classique). Les patients présentent des troubles de la marche (chutes fréquentes), une dysarthrie, une dysphagie, un nystagmus, une dysmétrie, éventuellement un syndrome cérébelleux, une myoclonie, une spasticité, une démence sévère et un mutisme. Le syndrome est toujours létal, après 5 ans d'évolution en moyenne. Le signe neuropathologique caractéristique est la présence de nombreuses plaques amyloïdes multicentriques dues à des mutations du gène codant pour la protéine prion."},"de":{"name":"Gerstmann-Sträussler-Scheinker-Syndrom","synonyms":["Enzephalopathie, spongiforme subakute, Typ Gerstmann-Sträussler","GSS"],"definition":"Eine seltene vererbte Prionkrankheit des Menschen, bei der im Erwachsenenalter eine langsam fortschreitende zerebelläre Ataxie auftritt, wobei sich die Demenz erst relativ spät im Krankheitsverlauf entwickelt (klassischer ataktischer Phänotyp). Die Patienten können Gangstörungen und häufige Stürze, Dysarthrie, Dysphagie, Nystagmus, Dysmetrie und schließlich ein pancerebelläres Syndrom, Myoklonus, Spastizität, schwere Demenz und Mutismus aufweisen. Die Krankheit endet im Durchschnitt nach fünf Jahren tödlich. Neuropathologisches Kennzeichen ist das Vorhandensein zahlreicher multizentrischer Prionprotein-Plaques in der Groß- und Kleinhirnrinde."},"es":{"name":"Síndrome de Gerstmann-Straussler-Scheinker","definition":"Es una enfermedad priónica humana hereditaria poco frecuente caracterizada por el inicio en la edad adulta de ataxia cerebelosa lentamente progresiva con demencia, que se desarrolla relativamente tarde en el curso de la enfermedad (fenotipo atáxico clásico). Los pacientes pueden presentar trastornos de la marcha y caídas frecuentes, disartria, disfagia, nistagmo, dismetría y, finalmente, síndrome pancerebeloso, mioclonía, espasticidad, demencia grave y mutismo. La enfermedad es invariablemente mortal en un plazo medio de cinco años. El sello neuropatológico es la presencia de numerosas placas multicéntricas de proteína priónica en la corteza cerebral y cerebelosa."},"it":{"name":"Sindrome di Gerstmann-Straussler-Scheinker","synonyms":["Encefalopatia spongiforme subacuta, tipo Gerstmann-Straussler"],"definition":"Si tratta di una malattia umana da prioni, rara ed ereditaria, che esordisce nell'età adulta con atassia cerebellare a progressione lenta e demenza ad esordio relativamente tardivo (fenotipo atassico classico). I pazienti possono presentare anomalie dell'andatura e cadute frequenti, disartria, disfagia, nistagmo, dismetria, sindrome pancerebellare, mioclono, spasticità, demenza grave e mutismo. La malattia è sempre letale, in media a cinque anni dall'esordio. Dal punto di vista neuropatologico, la malattia è caratterizzata dalla presenza di numerose placche multicentriche di proteina prionica nella corteccia cerebrale e cerebellare."},"nl":{"name":"Syndroom van Gerstmann-Straussler-Scheinker","synonyms":["Subacute spongiforme encefalopathie, Gerstmann-Straussler-type"],"definition":"Een zeldzame erfelijke humane prionziekte, gekenmerkt door aanvang in de volwassenheid van traag progressieve cerebellaire ataxie, en dementie die relatief laat tijdens het ziekteverloop ontwikkelt (klassiek atactisch fenotype). Patiënten kunnen zich presenteren met gangstoornissen en frequent vallen, dysartrie, dysfagie, nystagmus, dysmetrie, en tenslotte pancerebellair syndroom, myoclonus, spasticiteit, ernstige dementie, en mutisme. De ziekte is steeds fataal na gemiddeld vijf jaar. Het typische neuropathologische kenmerk is de aanwezigheid van talloze multicentrische plaques van prionproteïne in de cerebrale en cerebellaire cortex."},"pt":{"name":"Síndrome Gerstmann-Straussler-Scheinker","synonyms":["Encefalopatia espongiforme sub-aguda, tipo Gerstmann-Straussler"],"definition":"Doença humana de priões hereditária rara caracterizada por início no idade adulta de ataxia cerebelar lentamente progressiva, cuja demência ocorre relativamente tarde no curso da doença (fenótipo atáxico clássico). Os doentes podem apresentar anomalias da marcha e quedas frequentes, disartria, disfagia, nistagmo, dismetria e, eventualmente, síndrome pancerebelar, mioclonia, espasticidade, demência grave e mutismo. A doença é invariavelmente fatal após cinco anos, em média. A marca neuropatológica é a presença de numerosas placas multicêntricas de proteína priónica no córtex cerebral e cerebelar."},"pl":{"name":"Zespół Gerstmanna, Strausslera i Scheinkera","synonyms":["Podostra gąbczasta forma encefalopatii, typu Gerstmanna i Strausslera"]},"cs":{"name":"Gerstmannova-Strausslerova-Scheinkerova nemoc","synonyms":["Subakutní spongiformní encefalopatie, Gerstmannův-Strausslerův typ","Gerstmannův-Strausslerův-Scheinkerův syndrom","Gerstmann-Straussler-Scheinkerova nemoc","Subakutní spongiformní encefalopatie, Gerstmann-Strausslerův typ","Gerstmann-Straussler-Scheinkerův syndrom"]},"uk":{"name":"Синдром Герстмана-Страусслера-Шейнкера","synonyms":["Підгостра губчаста енцефалопатія типу Герстмана-Штраусслера"],"definition":"A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex."},"zh":{"name":"Gerstmann-Sraussler-Scheinker综合征","synonyms":["亚急性海绵状脑病，Gerstmann-Straussler型"]},"tr":{"name":"Gerstmann-Straussler-Scheinker sendromu","synonyms":["Subakut süngerimsi ensefalopati, Gerstmann-Straussler tipi"]}},"xrefs":[{"source":"OMIM","code":"137440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606688","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"A81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E02.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"406818835"},{"source":"MONDO","code":"0007656","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017495","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7690","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10072075","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":280400,"name":"Inherited human prion disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PRNP","name":"prion protein (Kanno blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301407[PMID]","hgnc":"9449","ensembl":"ENSG00000171867","omim":"176640","loci":["20p13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0055,"area":"Worldwide","status":"Validated","source":"16903147[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-07","source":"30103963[PMID]_20301407[PMID]","terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011730","label":"Abnormality of central sensory function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031006","label":"Acroparesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002062","label":"Morphological abnormality of the pyramidal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045084","label":"Limb myoclonus","frequency":"Occasional (29-5%)","criteria":null}]}}