{"entities":{"Q100868":{"pageid":91261,"ns":120,"title":"Item:Q100868","lastrevid":576131,"modified":"2026-08-16T17:38:49Z","type":"item","id":"Q100868","labels":{"mul":{"language":"mul","value":"ID_1328224522"},"pt-br":{"language":"pt-br","value":"Paraplegia esp\u00e1stica heredit\u00e1ria pura autoss\u00f4mica dominante devida a muta\u00e7\u00e3o no gene da espastina"},"en":{"language":"en","value":"Autosomal dominant pure hereditary spastic paraplegia due to mutations in Spastin gene"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Forma autoss\u00f4mica dominante de paraplegia esp\u00e1stica heredit\u00e1ria caracterizada por espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia, envolvimento hipert\u00f4nico da bexiga e leve diminui\u00e7\u00e3o da sensibilidade vibrat\u00f3ria nas extremidades inferiores, associada a muta\u00e7\u00e3o no gene SPAST1 que codifica a espastina. A idade de in\u00edcio varia da inf\u00e2ncia \u00e0 senesc\u00eancia. Progress\u00e3o cl\u00ednica \u00e9 insidiosa. Comprometimento cognitivo, dem\u00eancia e epilepsia t\u00eam sido reportados em algumas fam\u00edlias. Hist\u00f3ria familiar positiva \u00e9 frequente, por\u00e9m nem sempre \u00e9 elicitada. O diagn\u00f3stico pode ser auxiliado por exame de neuroimagem e teste gen\u00e9tico."},"en":{"language":"en","value":"An autosomal dominant form of hereditary spastic paraplegia characterised by lower limb spasticity pyramidal weakness, hyperreflexia, hypertonic bladder involvement and mild diminution of lower extremity vibration sense associated with mutations in the SPAST1 gene which encodes Spastin. The age of onset varies from childhood to senescence. Clinical progression is insidious. Cognitive impairment, dementia and epilepsy have been reported in some families. A positive family history is often, but not always elicited. The diagnosis may be aided by neuroimaging and genetic testing."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"7b9ad7665312043288779fb2e2e11f38e8356f5b","datavalue":{"value":"https://id.who.int/icd/entity/1328224522","type":"string"},"datatype":"url"},"type":"statement","id":"Q100868$585F3914-A806-4DB0-8216-288E9C7B70D5","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"9dad432c75f9c0a7853413b4cebb66f7bd4e19a1","datavalue":{"value":"CID11:ID_1328224522","type":"string"},"datatype":"string"},"type":"statement","id":"Q100868$2A0593F1-DC8C-4838-AC29-2B74FC7735CE","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"2c83df140e3fdf05b0435189542e9459eddbd497","datavalue":{"value":"dki-india-ID_1328224522","type":"string"},"datatype":"string"},"type":"statement","id":"Q100868$E7836D36-3F00-4E19-9399-ED15F878A9DC","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q100868$5DB7B9E4-038B-4904-BC6F-3A47E211A723","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":"Q100868$37E6AAB5-A965-4178-86CB-BD17A7588D2A","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":"Q100868$84E55A25-A027-428E-BC9F-9DC1398B58CB","rank":"normal"}]},"sitelinks":{}}}}