{"entities":{"Q101874":{"pageid":92267,"ns":120,"title":"Item:Q101874","lastrevid":583466,"modified":"2026-08-16T18:43:16Z","type":"item","id":"Q101874","labels":{"mul":{"language":"mul","value":"ID_976004020"},"pt-br":{"language":"pt-br","value":"Neurodegenera\u00e7\u00e3o associada \u00e0 prote\u00edna da membrana mitocondrial"},"en":{"language":"en","value":"Mitochondrial Membrane Protein-Associated Neurodegeneration"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A Neurodegenera\u00e7\u00e3o Associada \u00e0 Prote\u00edna da Membrana Mitocondrial (MPAN) \u00e9 causada por muta\u00e7\u00f5es no gene C19orf12. Este gene est\u00e1 localizado no cromossomo 19 e acredita-se que desempenhe um papel no metabolismo de \u00e1cidos graxos. \u00c9 uma das principais formas de NBIA e apresenta sintomas cl\u00ednicos distintos que a diferenciam de outras formas de NBIA._x000D_ A Neurodegenera\u00e7\u00e3o Associada \u00e0 Prote\u00edna da Membrana Mitocondrial (MPAN) \u00e9 caracterizada inicialmente por altera\u00e7\u00f5es na marcha, seguidas de paresia esp\u00e1stica progressiva, distonia progressiva (que pode ser limitada a m\u00e3os e p\u00e9s ou mais generalizada), anormalidades neuropsiqui\u00e1tricas (labilidade emocional, depress\u00e3o, ansiedade, impulsividade, compuls\u00f5es, alucina\u00e7\u00f5es, persevera\u00e7\u00e3o, desaten\u00e7\u00e3o e hiperatividade) e decl\u00ednio cognitivo. Outros achados precoces podem incluir disfagia, disartria, atrofia \u00f3ptica, neuropatia axonal, parkinsonismo e incontin\u00eancia intestinal/vesical. A sobrevida usualmente se estende \u00e0 idade adulta. A doen\u00e7a terminal \u00e9 caracterizada por dem\u00eancia grave, espasticidade, distonia e parkinsonismo."},"en":{"language":"en","value":"Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. This gene is found on chromosome 19 and is believed to play a role in fatty acid metabolism. It is one of the major forms of NBIA and has distinctive clinical symptoms that differentiate it from other forms of NBIA. Mitochondrial membrane protein-associated neurodegeneration (MPAN) is characterized initially by gait changes followed by progressive spastic paresis, progressive dystonia (which may be limited to the hands and feet or more generalized), neuropsychiatric abnormalities (emotional lability, depression, anxiety, impulsivity, compulsions, hallucinations, perseveration, inattention, and hyperactivity), and cognitive decline. Additional early findings can include dysphagia, dysarthria, optic atrophy, axonal neuropathy, parkinsonism, and bowel/bladder incontinence. Survival is usually well into adulthood. End-stage disease is characterized by severe dementia, spasticity, dystonia, and parkinsonism."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"932f34caefeeafb107d510da0965f748d774ba02","datavalue":{"value":"https://id.who.int/icd/entity/976004020","type":"string"},"datatype":"url"},"type":"statement","id":"Q101874$7560EFA4-C7FD-449C-B905-4B072B87292D","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b0e3b8f815d856b962b5c59228b2f7fec3b555ab","datavalue":{"value":"CID11:ID_976004020","type":"string"},"datatype":"string"},"type":"statement","id":"Q101874$A33E5BA5-6298-4D8F-9D63-6A38531B4E1E","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"b2a00b3a7d9eb6f9c55b8a0da627c16996c12e08","datavalue":{"value":"dki-india-ID_976004020","type":"string"},"datatype":"string"},"type":"statement","id":"Q101874$2C60CCD9-A758-4B1F-83D9-C18EA7F92791","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q101874$F6EC1414-0587-4333-922C-B94316958D1B","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":"Q101874$93DA5ABE-9087-4B00-866E-3215E970CDF4","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":"Q101874$15BF0A58-4687-482C-BE20-6A04FE81A5E4","rank":"normal"}]},"sitelinks":{}}}}