{"orpha":97353,"name":"Dementia pugilistica","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Boxer's dementia","Chronic traumatic encephalopathy","Punch-drunk syndrome"],"definition":"A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97353/","orphanet_url":"https://www.orpha.net/en/disease/detail/97353","names":{"fr":{"name":"Démence pugilistique","synonyms":["Encéphalite par trauma chronique"],"definition":"Maladie neurologique rare, caractérisée par une neurodégénérescence progressive secondaire à des lésions traumatiques légères et subies de manière répétée par le cerveau. Le tableau clinique est très variable et comprend des troubles psychiatriques et comportementaux (agressivité, dépression, hallucinations et suicidalité), des troubles cognitifs (capacité d'attention réduite, troubles de la mémoire, troubles des fonctions exécutives et démence) et des déficits moteurs (syndrome parkinsonien, ataxie et dysarthrie). Le signe neuropathologique caractéristique est l'accumulation de protéines tau phosphorylées dans les sillons et la région périvasculaire."},"de":{"name":"Dementia pugilistica","synonyms":["Boxer-Demenz","Enzephalopathie, chronische traumatische","Punch-Drunk-Syndrom"],"definition":"Eine seltene neurologische Erkrankung, die durch fortschreitende Neurodegeneration infolge wiederholter leichter traumatischer Hirnverletzungen gekennzeichnet ist. Das klinische Bild ist sehr variabel und umfasst verhaltensbezogene oder psychiatrische Symptome (wie Aggression, Depression, Wahnvorstellungen und Suizidalität), kognitive Beeinträchtigungen (einschließlich verminderter Aufmerksamkeit, Gedächtnisdefizite, Defizite in der Exekutivfunktion und Demenz) und motorische Defizite (einschließlich Parkinsonismus, Ataxie und Dysarthrie). Neuropathologisches Kennzeichen ist die Anhäufung von phosphoryliertem Tau-Protein in Sulci und perivaskulären Regionen."},"es":{"name":"Demencia pugilística","synonyms":["Demencia del boxeador","Encefalopatía traumática crónica","Síndrome Punch-drunk"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por una neurodegeneración progresiva secundaria a traumatismos cerebrales leves y repetitivos. El cuadro clínico es muy variable e incluye síntomas conductuales o psiquiátricos (tales como agresión, depresión, delirios y tendencias suicidas), deterioro cognitivo (incluyendo falta de atención, déficits de memoria y en la función ejecutiva y demencia) y trastornos motores (parkinsonismo, ataxia y disartria). La característica neuropatológica distintiva de la enfermedad es el acúmulo de proteína tau fosforilada en los surcos y en las regiones perivasculares."},"it":{"name":"Demenza pugilistica","synonyms":["Demenza del pugile","Encefalopatia cronica traumatica","Sindrome \"punch-drunk\""],"definition":"Si tratta di una malattia neurologica rara, caratterizzata da una degenerazione neurologica progressiva secondaria alle lesioni cerebrali traumatiche lievi e reiterate. Il quadro clinico è molto variabile e comprende sintomi comportamentali o psichiatrici (aggressività, depressione, allucinazioni e tendenza al suicidio), deficit cognitivo (riduzione dell'attenzione, deficit mnemonici e della funzione esecutiva, e demenza) e deficit motori (parkinsonismo, atassia e disartria). Dal punto di vista neuropatologico, la malattia è caratterizzata da accumuli della proteina tau fosforilata nei solchi e nelle regioni perivascolari."},"nl":{"name":"Dementia pugilistica","synonyms":["Boksersdementie","Chronische traumatische encefalopathie","Punch drunk-syndroom"],"definition":"Een zeldzame neurologische aandoening, gekarakteriseerd door progressieve neurodegeneratie secundair aan herhaaldelijke milde traumatische hersenletsels. Het klinisch beeld is zeer variabel en omvat gedragssymptomen of psychiatrische symptomen (zoals agressie, depressie, wanen, en zelfmoordneigingen), cognitieve functiestoornis (waaronder verminderd concentratievermogen, geheugenstoornissen, verstoord executief functioneren, en dementie), en motorische defecten (waaronder parkinsonisme, ataxie, en dysartrie). Een typisch neuropathologisch kenmerk is de accumulatie van gefosforyleerd tau-proteïne in sulci en perivasculaire gebieden."},"pt":{"name":"Demência pugilística","synonyms":["Demência do pugilista"]},"pl":{"name":"Demencja bokserów","synonyms":["Demencja bokserska","Przewlekła encefalopatia urazowa","Zespół zamroczenia od uderzenia pięścią"]},"cs":{"name":"Dementia pugilistica","synonyms":["Boxerská demence","Chronická traumatická encefalopatie","Punch-drunk syndrom"]},"uk":{"name":"Деменція бійцівського типу","synonyms":["Боксерська деменція","Хронічна травматична енцефалопатія","Синдром пяного пуншу"],"definition":"A rare neurologic disease characterized by progressive neurodegeneration secondary to repetitive mild traumatic brain injuries. The clinical picture is highly variable and includes behavioral or psychiatric symptoms (such as aggression, depression, delusions, and suicidality), cognitive impairment (including diminished attention, memory deficits, executive functioning deficits, and dementia), and motor deficits (including parkinsonism, ataxia, and dysarthria). Neuropathological hallmark is the accumulation of phosphorylated tau-protein in sulci and perivascular regions."},"zh":{"name":"拳击员痴呆","synonyms":["慢性创伤性脑病"],"definition":"一种罕见的神经系统疾病，其特征是继发于反复轻度创伤性脑损伤的进行性神经退化。该病临床表现差异大，包括行为或精神症状(如攻击性、抑郁、妄想和自杀)、认知障碍(包括注意力减退、记忆缺陷、执行功能障碍和痴呆)和运动障碍(包括帕金森症、共济失调和构音障碍)。神经病理特征是在脑沟和血管周围有磷酸化的tau蛋白积聚。"},"tr":{"name":"Demans pugilistica","synonyms":["Boxer'ün demansı","Sarhoş yumruğu sendromu","Kronik travmatik ensefalopati"]}},"xrefs":[{"source":"ICD-10","code":"F01.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.25","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"99508222"},{"source":"MONDO","code":"0019976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0149843","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":89043,"name":"Rare dementia","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}