{"orpha":623615,"name":"Autoimmune limbic encephalitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALE"],"definition":"A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-623615/","orphanet_url":"https://www.orpha.net/en/disease/detail/623615","names":{"fr":{"name":"Encéphalite limbique auto-immune","definition":"Encéphalite auto-immune rare affectant les lobes temporaux mésiaux et caractérisée sur le plan clinique par l'apparition d'une forme subaiguë (c'est-à-dire une progression rapide de moins de trois mois) de troubles de la mémoire à court terme, de convulsions ou de symptômes psychiatriques, tels que des changements de comportement, une anxiété, une dépression et une psychose. Les autres critères de diagnostic sont des anomalies bilatérales limitées aux lobes temporaux mésiaux visibles à l'IRM cérébrale, une pléiocytose du liquide céphalorachidien et/ou une activité épileptique ou à ondes lentes affectant les lobes temporaux visibles à l'EEG, d'autres causes pouvant être raisonnablement exclues. Des anticorps paranéoplasiques ou non paranéoplasiques dirigés contre des antigènes neuronaux peuvent être présents dans le sérum et/ou dans le liquide céphalorachidien."},"de":{"name":"Autoimmune limbische Enzephalitis","synonyms":["ALE"],"definition":"Eine Autoimmunenzephalitis mit Beteiligung der mesialen Schläfenlappen, die klinisch durch subakut einsetzende (d. h. rasch fortschreitende, weniger als drei Monate andauernde) Defizite des Kurzzeitgedächtnisses, Krampfanfälle oder psychiatrische Symptome wie Verhaltensänderungen, Angstzustände, Depressionen und Psychosen gekennzeichnet ist. Weitere diagnostische Kriterien sind bilaterale, auf die mesialen Schläfenlappen beschränkte Anomalien im MRT des Gehirns, eine Liquorpleozytose und/oder epileptische oder langsame Aktivität mit Beteiligung der Schläfenlappen im EEG sowie der begründete Ausschluss anderer Ursachen. Paraneoplastische oder nicht-paraneoplastische Antikörper gegen neuronale Antigene können im Serum und/oder im Liquor nachgewiesen werden."},"es":{"name":"Encefalitis límbica autoinmune","definition":"Es una encefalitis autoinmune poco frecuente que afecta a los lóbulos temporales mesiales y que se caracteriza clínicamente por la aparición subaguda (es decir, una progresión rápida de menos de tres meses) de déficits de memoria a corto plazo, crisis epilépticas o síntomas psiquiátricos, como cambios conductuales, ansiedad, depresión y psicosis. Otros criterios diagnósticos incluyen las anomalías bilaterales restringidas a los lóbulos temporales mesiales en la neuroimagen, la pleocitosis del líquido cefalorraquídeo y/o la actividad epiléptica o de ondas lentas que afecta a los lóbulos temporales en el EEG, y la exclusión razonable de otras posibles causas. En algunos casos, es posible detectar anticuerpos paraneoplásicos o no paraneoplásicos contra antígenos neuronales en suero y/o líquido cefalorraquídeo."},"it":{"name":"Encefalite limbica autoimmune","synonyms":["ALE"]},"nl":{"name":"Auto-immune limbische encefalitis","synonyms":["ALE"],"definition":"Een zeldzame auto-immune encefalitis met betrokkenheid van mesiale temporaalkwab, klinisch gekenmerkt door subacute aanvang (snelle progressie van minder dan drie maanden) deficiënties van kortetermijngeheugen, insulten of psychiatrische symptomen, zoals gedragsveranderingen, angst, depressie en psychose. Bijkomende diagnostische criteria zijn bilaterale afwijkingen beperkt tot mesiale temporaalkwab bij MRI van hersenen, pleocytose in cerebrospinaal vocht en/of epileptische of trage-golfactiviteit met betrokkenheid van temporaalkwab bij EEG, en gegronde exclusie van alternatieve oorzaken. Paraneoplastische of niet-paraneoplastische antilichamen tegen neuronale antigenen worden mogelijk aangetroffen in serum en/of cerebrospinaal vocht."},"pt":{"name":"Encefalite límbica autoimune","synonyms":["ALE"],"definition":"Encefalite autoimune rara que envolve os lobos temporais mesiais e é clinicamente caracterizada por início subagudo (ou seja, progressão rápida em menos de três meses) de défices de memória de curto prazo, convulsões ou sintomas psiquiátricos, como alterações comportamentais, ansiedade, depressão e psicose. Outros critérios diagnósticos são as anomalias bilaterais restritas aos lobos temporais mesiais na ressonância magnética cerebral, pleocitose do líquido cefalorraquidiano e/ou atividade epilética ou de ondas lentas envolvendo os lobos temporais no EEG e exclusão razoável de causas alternativas. Anticorpos paraneoplásicos ou não paraneoplásicos contra antígenos neuronais podem ser encontrados no soro e/ou no líquido cefalorraquidiano."},"pl":{"name":"Autoimmunologiczne zapalenie układu limbicznego mózgu","synonyms":["ALE"],"definition":"Rzadkie autoimmunologiczne zapalenie mózgu, obejmujące przyśrodkowe płaty skroniowe i charakteryzujące się podostrym początkiem (tj. szybkim postępem trwającym mniej niż trzy miesiące) deficytów pamięci krótkotrwałej, napadów padaczkowych lub objawów psychicznych, takich jak zmiany zachowania, lęk, depresja i psychoza. Dalsze kryteria diagnostyczne to obustronne nieprawidłowości ograniczone do przyśrodkowych płatów skroniowych w MRI mózgu, pleocytoza płynu mózgowo-rdzeniowego i/lub aktywność drgawkowa lub obecność fal wolnych w zapisie EEG znad płatów skroniowych oraz wykluczenie alternatywnych przyczyn. W surowicy i/lub płynie mózgowo-rdzeniowym mogą być obecne przeciwciała paranowotworowe lub nieparanowotworowe, skierowane przeciwko antygenom neuronalnym."},"cs":{"name":"Autoimunitní limbická encefalitida","synonyms":["ALE"]},"uk":{"name":"Аутоімунний лімбічний енцефаліт","synonyms":["ALE"],"definition":"A rare autoimmune encephalitis involving the mesial temporal lobes and clinically characterized by subacute onset (i. e. rapid progression of less than three months) of short-term memory deficits, seizures or psychiatric symptoms, such as behavioral changes, anxiety, depression, and psychosis. Further diagnostic criteria are bilateral abnormalities restricted to the mesial temporal lobes in brain MRI, cerebrospinal fluid pleocytosis and/or epileptic or slow-wave activity involving the temporal lobes in EEG, and reasonable exclusion of alternative causes. Paraneoplastic or non-paraneoplastic antibodies against neuronal antigens may be found in serum and/or cerebrospinal fluid."}},"xrefs":[{"source":"ICD-10","code":"G04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E4A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1254443511"},{"source":"MONDO","code":"0850097","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C531729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":622014,"name":"Autoimmune encephalitis","classifications":[181]},{"orpha":36388,"name":"Paraneoplastic neurologic syndrome","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Europe","status":"Validated","source":"31552550[PMID]_ORPHANET"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Europe","status":"Validated","source":"31552550[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"31085562[PMID]_34603897[PMID]_26906964[PMID]_30421340[PMID]","terms":[{"hpo":"HP:0012658","label":"Abnormal brain FDG positron emission tomography","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:5000016","label":"Anti-Hu antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000020","label":"Anti-LGI1 antibody","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:6000397","label":"CSF oligoclonal immunoglobulin G bands","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010843","label":"EEG with focal slow activity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:6001115","label":"EEG with temporal slowing","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033687","label":"Short term memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:5000005","label":"Anti-CASPR2","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5000010","label":"Anti-GABA(B)R antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010532","label":"Paroxysmal vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100836","label":"Malignant neoplasm of the central nervous system","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}