{"orpha":85110,"name":"Familial encephalopathy with neuroserpin inclusion bodies","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FENIB"],"definition":"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85110/","orphanet_url":"https://www.orpha.net/en/disease/detail/85110","names":{"fr":{"name":"Encéphalopathie familiale à corps d'inclusion de neuroserpine","synonyms":["FENIB"],"definition":"Serpinopathie rare caractérisée par une épilepsie myoclonique progressive et/ou une démence présénile dont les principales caractéristiques sont celles d'une atteinte du lobe frontal, la mémoire épisodique étant relativement épargnée. D'autres manifestations neurologiques, dont les signes d'une atteinte cérébelleuse et pyramidale, peuvent être présents. L'âge d'apparition est variable, la maladie ayant été rapportée aussi bien chez des patients pédiatriques que chez des patients âgés. L'examen neuropathologique met en évidence des inclusions neuronales typiques de neuroserpine résultant de la mutation de son gène codant (corps de Collins)."},"de":{"name":"Enzephalopathie mit Neuroserpin-Einschlüssen, familiäre Form","synonyms":["FENIB"],"definition":"Eine seltene neurologische Krankheit aus der Gruppe der Serpinopathien, die durch fortschreitende Myoklonus-Epilepsie und/oder präsenile Demenz mit ausgeprägten Frontallappenmerkmalen und einer relativen Einschränkung des Erinnerungsvermögens gekennzeichnet ist. Darüber hinaus können andere neurologische Manifestationen wie Kleinhirnsymptome und pyramidale Anzeichen vorhanden sein. Das Alter, in dem die Krankheit auftritt, ist variabel; es wurde sowohl von Kindern als auch von älteren Patienten berichtet. Die neuropathologische Untersuchung zeigt die typischen neuronalen Einschlüsse von mutiertem Neuroserpin (Collins-Körperchen)."},"es":{"name":"Encefalopatía con cuerpos de inclusión de neuroserpina, forma familiar","synonyms":["FENIB"],"definition":"Es una serpinopatía poco frecuente caracterizada por epilepsia mioclónica progresiva y/o demencia presenil con destacadas manifestaciones frontales y una relativa conservación de la memoria de evocación. Además, pueden presentarse otras manifestaciones neurológicas como síntomas cerebelosos y signos piramidales. La edad de inicio de la enfermedad es variable y se ha descrito tanto en niños como en pacientes de edad avanzada. El examen neuropatológico revela las típicas inclusiones neuronales de neuroserpina mutada (cuerpos de Collins)."},"it":{"name":"Encefalopatia familiare con corpi inclusi di neuroserpina","synonyms":["FENIB"],"definition":"Si tratta di una serpinopatia rara, caratterizzata da epilessia mioclonica progressiva e/o demenza presenile, con segni clinici correlati per lo più al lobo frontale, mentre la memoria evocativa è relativamente risparmiata. I pazienti possono presentare anche altri sintomi neurologici, come quelli cerebellari e piramidali. L'età all'esordio è variabile; la malattia è stata osservata sia nei bambini che nei pazienti di età più avanzata. L'esame neuropatologico evidenzia tipiche inclusioni neuronali di neuroserpina mutata (corpi di Collins)."},"nl":{"name":"Familiale encefalopathie met neuroserpine-inclusielichamen","synonyms":["FENIB"],"definition":"Een zeldzame serpinopathie, gekarakteriseerd door progressieve myoclonusepilepsie en/of preseniele dementie met aanzienlijke kenmerken aan frontale kwabben en relatief gespaard blijven van herinneringen. Daarnaast kunnen andere neurologische manifestaties zoals cerebellaire symptomen en piramidale tekenen aanwezig zijn. De aanvangsleeftijd is variabel, en de ziekte werd al gerapporteerd bij kinderen en bij oudere patiënten. Neuropathologisch onderzoek toont de typische neuronale inclusies bestaande uit gemuteerd neuroserpine (lichaampjes van Collins)."},"pt":{"name":"Encefalopatia com corpos de inclusão de neuroserpina, forma familiar"},"pl":{"name":"Rodzinna encefalopatia z ciałami wtrętowymi z neuroserpiny","synonyms":["FENIB"]},"cs":{"name":"Familiární encefalopatie s inkluzními tělísky neuroserpinu","synonyms":["FENIB"]},"uk":{"name":"Сімейна енцефалопатія з нейросерпіновими тільцями включення","synonyms":["FENIB"],"definition":"A rare serpinopathy characterized by progressive myoclonus epilepsy and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies)."},"zh":{"name":"家族性脑病伴神经丝氨酸蛋白包涵体","synonyms":["FENIB病"]},"tr":{"name":"Nöroserpin inklüzyon cisimcikleri ile seyreden ailesel ensefalopati","synonyms":["FENİB"]}},"xrefs":[{"source":"OMIM","code":"604218","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"453919434"},{"source":"MONDO","code":"0011412","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536841","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858680","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10037","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98261,"name":"Progressive myoclonic epilepsy","classifications":[156,181]},{"orpha":250808,"name":"Serpinopathy with toxic serpin polymerization","classifications":[156]}],"children":[{"orpha":530303,"name":"Progressive dementia with neuroserpin inclusion bodies","type":"Clinical subtype"},{"orpha":530298,"name":"Progressive myoclonic epilepsy with neuroserpin inclusion bodies","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SERPINI1","name":"serpin family I member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12103288[PMID]","hgnc":"8943","ensembl":"ENSG00000163536","omim":"602445","loci":["3q26.1"],"via":{"orpha":530303,"name":"Progressive dementia with neuroserpin inclusion bodies"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"18591508[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18591508[PMID]"}],"phenotypes":null}