{"entities":{"Q99410":{"pageid":89803,"ns":120,"title":"Item:Q99410","lastrevid":565554,"modified":"2026-08-16T16:04:44Z","type":"item","id":"Q99410","labels":{"mul":{"language":"mul","value":"ID_1251066988"},"pt-br":{"language":"pt-br","value":"Paraplegia esp\u00e1stica heredit\u00e1ria pura autoss\u00f4mica recessiva devido a muta\u00e7\u00e3o do gene da espatacsina"},"en":{"language":"en","value":"Autosomal recessive pure hereditary spastic paraplegia due to mutations in Spatacsin gene"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Forma autoss\u00f4mica recessiva de paraplegia esp\u00e1stica heredit\u00e1ria caracterizada por espasticidade de membros inferiores, fraqueza piramidal, hiperreflexia, envolvimento hipert\u00f4nico da bexiga e diminui\u00e7\u00e3o de sensibilidade vibrat\u00f3ria nas extremidades inferiores associado a muta\u00e7\u00f5es no SPG11 que codifica a espatacsina. Outras manifesta\u00e7\u00f5es cl\u00ednicas comuns incluem dificuldade de aprendizagem, comprometmento cognitivo, neuropatia perif\u00e9rica e sinais pseudo-bulbares. Manifesta\u00e7\u00f5es menos comuns incluem disfun\u00e7\u00e3o cerebelar, degenera\u00e7\u00e3o retiniana e parkinsonismo. Inicio usualmente ocorre entre a inf\u00e2ncia e adolesc\u00eancia. Exame de imagem do c\u00e9rebro pode demonstrar afilamento do corpo caloso e atrofia cortical. O diagn\u00f3stico pode ser auxiliado por teste gen\u00e9tico."},"en":{"language":"en","value":"An autosomal recessive 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 SPG11 which encodes Spatacsin. Other common clinical features include learning difficulties and cognitive impairment, peripheral neuropathy and pseudobulbar signs. Less common features include cerebellar dysfunction, retinal degeneration and parkinsonism. Onset is usually between infancy and adolescence. Brain imaging may demonstrate thinning of the corpus callosum and cortical atrophy. The diagnosis may be aided by genetic testing."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"1653648a5d5482df9a831ff9b557780fa079442d","datavalue":{"value":"https://id.who.int/icd/entity/1251066988","type":"string"},"datatype":"url"},"type":"statement","id":"Q99410$767C6079-DFCD-4F3C-B5C1-12B66246E932","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"c2315a09e12135f4528608591fd490e2c622b11f","datavalue":{"value":"CID11:ID_1251066988","type":"string"},"datatype":"string"},"type":"statement","id":"Q99410$48B36F28-7B01-44EF-B316-457F67A2FE3D","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"14bc2016aeb6eb9f744500841bf8a700f5eede01","datavalue":{"value":"dki-india-ID_1251066988","type":"string"},"datatype":"string"},"type":"statement","id":"Q99410$CB54513B-444C-4604-B5ED-D451A8F80B75","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99410$59FD5B6D-1B31-4E17-A4FA-846282799AF0","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":"Q99410$66EF1CB0-373F-4C19-802E-B142A06C8117","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q99410$E88DF687-85D9-41D2-A175-0BCCA35922E4","rank":"normal"}]},"sitelinks":{}}}}