{"orpha":247198,"name":"Progressive cerebello-cerebral atrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PCCA"],"definition":"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247198/","orphanet_url":"https://www.orpha.net/en/disease/detail/247198","names":{"fr":{"name":"Atrophie cérébello-cérébrale progressive","synonyms":["PCCA"],"definition":"Trouble neurologique génétique rare caractérisé par l'apparition postnatale d'un retard de développement global sévère, d'une déficience intellectuelle, d'une microcéphalie progressive, d'une spasticité progressive évoluant vers une quadriplégie spastique avec contractures articulaires, de crises généralisées et d'irritabilité. Choréoathétose sévère et dysmorphie sont absentes. L'imagerie cérébrale montre une atrophie cérébelleuse progressive suivie d'une atrophie cérébrale touchant à la fois la matière blanche et la matière grise, en l'absence de toute atteinte pontique."},"de":{"name":"Progressive zerebelläre-zerebrale Atrophie","synonyms":["PCCA"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch eine schwere postnatale globale Entwicklungsverzögerung, schwere Intelligenzminderung, progressive Mikrozephalie, progressive Spastik bis hin zu spastischer Tetraplegie mit Gelenkkontrakturen, generalisierte Krampfanfälle und Reizbarkeit gekennzeichnet ist. Schwere Choreoathetose und dysmorphe Merkmale fehlen. Die zerebrale Bildgebung zeigt eine fortschreitende Atrophie des Kleinhirns, gefolgt von einer Atrophie der weißen und grauen Substanz ohne pontine Beteiligung."},"es":{"name":"Atrofia cerebral y cerebelosa progresiva","synonyms":["PCCA"],"definition":"Es un trastorno neurológico genético poco común caracterizado por la aparición posnatal de grave retraso global del desarrollo, discapacidad intelectual profunda, microcefalia progresiva, espasticidad progresiva que evoluciona a cuadriplejía espástica con contracturas articulares, crisis generalizadas e irritabilidad. La coreoatetosis grave y las características dismórficas están ausentes. La neuroimagen muestra atrofia cerebelosa progresiva seguida de atrofia cerebral que afecta tanto a la sustancia blanca como a la gris, pero sin afectación pontina."},"it":{"name":"Atrofia cerebello-cerebrale progressiva","synonyms":["PCCA"],"definition":"Si tratta di una malattia neurologica genetica rara, che si manifesta dopo la nascita con grave ritardo dello sviluppo globale, ritardo mentale profondo, microcefalia progressiva, spasticità progressiva che evolve nella tetraplegia spastica con contratture articolari, crisi epilettiche generalizzate e irritabilità. Non si associa a coreoatetosi grave e dismorfismi. Le neuroimmagini evidenziano atrofia cerebellare progressiva seguita da atrofia cerebrale che interessa sia la sostanza bianca che quella grigia, risparmiando il ponte."},"nl":{"name":"Progressieve cerebello-cerebrale atrofie","synonyms":["PCCA"],"definition":"Een zeldzame genetische neurologische aandoening, gekenmerkt door postnatale aanvang van ernstige algehele ontwikkelingsachterstand, zeer ernstige mentale retardatie, progressieve microcefalie, progressieve spasticiteit die evolueert naar spastische quadriplegie met gewrichtscontracturen, gegeneraliseerde insulten, en prikkelbaarheid. Ernstige choreoathetose en dysmorfe kenmerken zijn afwezig. Beeldvorming van hersenen toont progressieve cerebellaire atrofie, gevolgd door cerebrale atrofie die zowel witte als grijze stof aantast, maar zonder betrokkenheid van pons."},"pt":{"name":"Atrofia cerebelo-cerebral progressiva","synonyms":["PCCA"],"definition":"Doença neurológica genética rara caracterizada por início pós-natal de atraso grave do desenvolvimento global, perturbação do desenvolvimento intelectual grave, microcefalia progressiva, espasticidade progressiva evoluindo para quadriplegia espástica com contraturas articulares, convulsões generalizadas e irritabilidade. A coreoatetose grave e características dismórficas estão ausentes. A imagiologia cerebral evidencia atrofia cerebelosa progressiva seguida de atrofia cerebral com afetação sobreponível da substância branca e cinzenta, mas sem compromisso pontino."},"pl":{"name":"Postępujący zanik móżdżkowo-mózgowy","synonyms":["PCCA"]},"cs":{"name":"Progresivní cerebelo-cerebrální atrofie","synonyms":["PCCA"]},"uk":{"name":"Прогресуюча мозочково-мозкова атрофія","synonyms":["PCCA"],"definition":"A rare genetic neurological disorder characterized by postnatal onset of severe global developmental delay, profound mental retardation, progressive microcephaly, progressive spasticity evolving into spastic quadriplegia with joint contractures, generalized seizures, and irritability. Severe choreoathetosis and dysmorphic features are absent. Brain imaging shows progressive cerebellar atrophy followed by cerebral atrophy affecting both white and grey matter, but no pontine involvement."},"zh":{"name":"进行性小脑萎缩","synonyms":["PCCA"]},"tr":{"name":"İlerleyici serebello-serebral atrofi","synonyms":["PCCA"]}},"xrefs":[{"source":"OMIM","code":"615851","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016589","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151140","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SEPSECS","name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20920667[PMID]","hgnc":"30605","ensembl":"ENSG00000109618","omim":"613009","loci":["4p15.2"]},{"symbol":"VPS53","name":"VPS53 subunit of GARP complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24577744[PMID]","hgnc":"25608","ensembl":"ENSG00000141252","omim":"615850","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"12920088[PMID]_25044680[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12920088[PMID]_25044680[PMID]"}],"phenotypes":null}