{"entities":{"Q101871":{"pageid":92264,"ns":120,"title":"Item:Q101871","lastrevid":583444,"modified":"2026-08-16T18:43:05Z","type":"item","id":"Q101871","labels":{"mul":{"language":"mul","value":"ID_1841340749"},"pt-br":{"language":"pt-br","value":"Neurodegenera\u00e7\u00e3o associada a prote\u00edna h\u00e9lice-beta"},"en":{"language":"en","value":"Beta-Propeller protein-associated neurodegeneration"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Neurodegenera\u00e7\u00e3o Associada \u00e0 Prote\u00edna Beta-h\u00e9lice (BPAN) \u00e9 a forma mais comum de Neurodegenera\u00e7\u00e3o com ac\u00famulo cerebral de ferro (NBIA) e \u00e9 causada por muta\u00e7\u00f5es no gene WDR45, localizado no cromossomo X._x000D_ A maioria dos indiv\u00edduos afetados identificados at\u00e9 o momento s\u00e3o casos simplex, o que significa que s\u00e3o a \u00fanica pessoa na fam\u00edlia a ter a doen\u00e7a. A maioria s\u00e3o mulheres, indicando que as muta\u00e7\u00f5es s\u00e3o novas, tamb\u00e9m conhecidas como \"de novo\", e sugerindo que as muta\u00e7\u00f5es podem ser letais na maioria dos homens antes do nascimento. H\u00e1 casos raros de recorr\u00eancia em um irm\u00e3o. Nesses casos, a muta\u00e7\u00e3o foi herdada de um dos pais levemente afetado._x000D_ A Neurodegenera\u00e7\u00e3o associada a prote\u00edna h\u00e9lice-beta (BPAN) \u00e9 tipicamente caracterizada por convuls\u00f5es de in\u00edcio precoce, atraso no desenvolvimento infantil, incapacidade intelectual, linguagem de express\u00e3o ausente ou limitada, disfun\u00e7\u00e3o motora (ataxia) e comportamentos anormais frequentemente semelhantes ao transtorno do espectro autista. Podem ser observados tipos de convuls\u00f5es, incluindo generalizadas (aus\u00eancia, t\u00f4nica, at\u00f4nica, t\u00f4nico-cl\u00f4nica e miocl\u00f4nica), focais com comprometimento da consci\u00eancia e espasmos epil\u00e9pticos, bem como s\u00edndromes epil\u00e9pticas (s\u00edndrome de West e s\u00edndrome de Lennox-Gastaut). Com a idade, as convuls\u00f5es tendem a se resolver ou se tornar menos proeminentes, enquanto decl\u00ednio cognitivo e transtornos do movimento (parkinsonismo progressivo e distonia) surgem como achados caracter\u00edsticos."},"en":{"language":"en","value":"Beta-propeller Protein-Associated Neurodegeneration (BPAN) is the most common form of Neurodegeneration with brain iron accumulation (NBIA) and caused by mutations in the gene WDR45, located on the X chromosome.  Most affected individuals identified so far have been simplex cases, meaning they are the only person in their family to have the disease. The majority are females, indicating the mutations are new, also known as de novo, and suggesting that mutations may be lethal in most males before birth. There are rare instances of recurrence in a sibling. In these cases, the mutation was inherited from a mildly affected parent.  Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent to limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"34a89f516e00c429ff86e9f57091c7eea1f3cb69","datavalue":{"value":"https://id.who.int/icd/entity/1841340749","type":"string"},"datatype":"url"},"type":"statement","id":"Q101871$D4BC1BC6-A772-4F5E-B84F-894C825E865A","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"ec3ae873781688c73845b449780b95f8d4041198","datavalue":{"value":"CID11:ID_1841340749","type":"string"},"datatype":"string"},"type":"statement","id":"Q101871$EF0B2200-73D8-4D71-BD25-A723D6CB5E7E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"79fc64ce1f11f03d57094aafd53a36c494071696","datavalue":{"value":"dki-india-ID_1841340749","type":"string"},"datatype":"string"},"type":"statement","id":"Q101871$B1AA90A2-8058-47A8-82A0-6EBB91705DB0","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q101871$86888AA2-8AE9-4686-8C7E-1C71A82D0E04","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q101871$54B1B508-30C5-47FD-AFDD-D5EB213E3203","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q101871$4DC040CD-7F94-4944-8EF3-DC0C17132678","rank":"normal"}]},"sitelinks":{}}}}