{"orpha":313808,"name":"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ALSP","Autosomal dominant leukoencephalopathy with neuroaxonal spheroids","FPSG","Familial dementia, Neumann type","Familial progressive subcortical gliosis","GPSC","HDLS","Hereditary diffuse leukoencephalopathy with spheroids","POLD","Pigmentary orthochromatic leukodystrophy","Subcortical gliosis of Neumann"],"definition":"A rare leukodystrophy characterized by progressive cognitive impairment, neuropsychiatric features, motor dysfunction involving parkinsonian symptoms, gait disturbances, spasticity and speech impairment. Epilepsy, stroke-like episodes, sensory dysfunction, dizziness, fatigue, urinary and fecal incontinence are commonly observed in affected individuals. Neuroaxonal spheroids and pigmented (iron or lipofuscin) macrophages and glial cells, together with diffuse myelin loss and axonal destruction, are major histopathological hallmarks.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313808/","orphanet_url":"https://www.orpha.net/en/disease/detail/313808","names":{"fr":{"name":"Leucoencéphalopathie héréditaire diffuse à sphéroïdes axonaux et cellules gliales pigmentées","synonyms":["ALSP","Démence familiale type Neumann","FPSG","GPSC","Gliose sous-corticale de Neumann","Gliose sous-corticale progressive familiale","HDLS","Leucodystrophie orthochromatique pigmentaire","Leucoencéphalopathie avec sphéroïdes neuro-axonaux","POLD"],"definition":"Leucodystrophie rare caractérisée par des troubles cognitifs progressifs, des manifestations neuropsychiatriques, des symptômes moteurs à type de maladie de Parkinson, de marche anormale, de spasticité et de troubles du langage. Une épilepsie, des épisodes ressemblant à des accidents vasculaires cérébraux, des troubles sensoriels, des vertiges, une fatigue, une incontinence urinaire et fécale sont couramment observés chez les personnes touchées. Les sphéroïdes neuro-axonaux, les macrophages et les cellules gliales pigmentées (fer ou lipofuscine), ainsi qu'une perte diffuse de myéline et une dégénérescence axonale sont les principales caractéristiques histopathologiques de la maladie."},"de":{"name":"Hereditäre diffuse Leukoenzephalopathie mit axonalen Sphäroiden und pigmentierter Glia","synonyms":["ALSP","Adulte Leukoenzephalopathie mit axonalen Sphäroiden und pigmentierter Glia","Demenz, familiäre, Typ Neumann","FPSG","Familäre progressive subkortikale Gliose","GPSC","HDLS","Hereditäre diffuse Leukoenzephalopathie mit Sphäroiden","Leukodystrophie, orthochromatische pigmentierte","Leukoenzephalopathie, autosomal-dominante, mit neuroaxonalen Sphäroiden","POLD","Subkortikale Gliose Neumann"],"definition":"Eine seltene Leukodystrophie, die durch fortschreitende kognitive Beeinträchtigung, neuropsychiatrische Merkmale, motorische Dysfunktion mit parkinsonschen Symptomen, Gangstörungen, Spastizität und Sprachstörungen gekennzeichnet ist. Epilepsie, schlaganfallartige Episoden, sensorische Dysfunktion, Schwindel, Müdigkeit, Harn- und Stuhlinkontinenz werden bei den Betroffenen häufig beobachtet. Neuroaxonale Sphäroide und pigmentierte (Eisen oder Lipofuszin) Makrophagen und Gliazellen sind zusammen mit diffusem Myelinverlust und axonaler Zerstörung die wichtigsten histopathologischen Merkmale."},"es":{"name":"Leucoencefalopatía difusa hereditaria con esferoides axonales y células gliales pigmentadas","synonyms":["ALSP","Demencia familiar tipo Neumann","FPSG","GPSC","Gliosis subcortical de Neumann","Gliosis subcortical progresiva familiar","HDLS","Leucodistrofia ortocromática pigmentaria","Leucoencefalopatía autosómica dominante con esferoides neuroaxonales","Leucoencefalopatía de inicio en el adulto con esferoides axonales y células gliales pigmentadas","Leucoencefalopatía difusa hereditaria con esferoides","POLD"],"definition":"Es una leucodistrofia poco frecuente caracterizada por afectación cognitiva progresiva, características neuropsiquiátricas, disfunción motora con síntomas parkinsonianos, alteraciones de la marcha, espasticidad y trastornos del habla. Los pacientes suelen presentar epilepsia, episodios similares a accidentes cerebrovasculares, disfunción sensitiva, mareos, fatiga e incontinencia urinaria y fecal. Los esferoides neuroaxonales, macrófagos y células gliales pigmentadas (hierro o lipofuscina), junto con pérdida difusa de mielina y destrucción axonal, son las principales características histopatológicas."},"it":{"name":"Leucoencefalopatia diffusa ereditaria con sferoidi assonali e nevroglia pigmentata","synonyms":["ALSP","Demenza familiare, tipo Neumann","FPSG","GPSC","Gliosi sottocorticale di Neumann","Gliosi sottocorticale progressiva familiare","HDLS","Leucodistrofia ortocromatica pigmentosa","Leucoencefalopatia a esordio nell'età adulta con sferoidi assonali e nevroglia pigmentata","Leucoencefalopatia autosomica dominante con sferoidi neuroassonali","Leucoencefalopatia diffusa ereditaria con sferoidi","POLD"]},"nl":{"name":"Erfelijke diffuse leuko-encefalopathie met axonale sferoïden en gepigmenteerde glia","synonyms":["ALSP","Autosomaal dominante leuko-encefalopathie met neuro-axonale sferoïden","Erfelijke diffuse leuko-encefalopathie met sferoïden","FPSG","Familiale dementie, Neumann-type","Familiale progressieve subcorticale gliose","GPSC","Gepigmenteerde orthochromatische leukodystrofie","HDLS","Leuko-encefalopathie met axonale sferoïden en gepigmenteerde glia met aanvang in de volwassenheid","POLD","Subcorticale gliose van Neumann"],"definition":"Een zeldzame leukodystrofie, gekenmerkt door progressieve cognitieve functiestoornis, neuropsychiatrische kenmerken, motorische disfunctie met parkinsoniaanse symptomen, gangstoornissen, spasticiteit en spraakstoornis. Epilepsie, beroerte-achtige episodes, sensorische disfunctie, duizeligheid, vermoeidheid, urinaire en fecale incontinentie worden doorgaans waargenomen bij getroffen individuen. Neuroaxonale sferoïden en gepigmenteerde (ijzer of lipofuscine) macrofagen en gliacellen, in combinatie met diffuus verlies van myeline en destructie van axonen, zijn belangrijke histopathologische kenmerken."},"pt":{"name":"Leucoencefalopatia de inicio na idade adulta com esferóides axonais e glia pigmentada","synonyms":["ALSP","HDLS","Leucodistrofia ortocromática pigmentar","Leucoencefalopatia autossómica dominante com esferóides neuroaxonais","Leucoencefalopatia difusa hereditária com esferóides","POLD"]},"pl":{"name":"Dziedziczna rozlana leukoencefalopatia ze sferoidami aksonalnymi i pigmentacją gleju","synonyms":["ALSP","Autosomalna dominująca leukoencefalopatia ze sferoidami neuroaksonalnymi","Dziedziczna rozlana leukoencefalopatia ze sferoidami","FPSG","Glioza podkorowa Neumanna","GPSC","HDLS","Leukodystrofia barwnikowa ortochromatyczna","Leukoencefalopatia o początku w wieku dorosłym ze sferoidami aksonalnymi i pigmentacją gleju","POLD","Rodzinna demencja, typu Neumanna","Rodzinna postępująca glioza podkorowa"],"definition":"Rzadka leukodystrofia charakteryzująca się postępującym upośledzeniem funkcji poznawczych, objawami neuropsychiatrycznymi, dysfunkcją ruchową obejmującą objawy parkinsonowskie, zaburzenia chodu, spastyczność i zaburzenia mowy. U osób dotkniętych chorobą często występuje padaczka, epizody udaropodobne, zaburzenia czucia, zawroty głowy, zmęczenie, nietrzymanie moczu i kału. Charakterystyczne cechy histopatologiczne to obecność neuroaksonalnych sferoidów, zabarwionych (żelazem lub lipofuscyną) makrofagów i komórek glejowych oraz rozlana utrata mieliny i zniszczenie aksonów."},"cs":{"name":"Hereditární difuzní leukoencefalopatie s axonálními sferoidy a pigmentovanou glií","synonyms":["ALSP","FPSG","Familiární progresivní subkortikální glióza","GPSC","HDLS","Hereditární difúzní leukoencefalopatie se sferoidy","POLD","Pigmentová ortochromatická leukodystrofie","Subkortikální Neumannova glióza","Leukoencefalopatie s axonálními sferoidy a pigmentovanou glií se vznikem u dospělých","Autozomálně dominantní leukoencefalopatie s neuroaxonálními sferoidy","Familiární demence, Neumannův typ"]},"uk":{"name":"Лейкоенцефалопатія у дорослих з аксональними сфероїдами та пігментованою глією","synonyms":["ALSP","Аутосомно-домінантна лейкоенцефалопатія з нейроаксональними сфероїдами","Сімейна деменція за типом Неймана","Сімейний прогресуючий підкірковий гліоз","FPSG","GPSC","HDLS","Спадкова дифузна лейкоенцефалопатія зі сфероїдами","Пігментна ортохроматична лейкодистрофія","POLD","Підкірковий гліоз Неймана"],"definition":"Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy."},"zh":{"name":"遗传性弥漫性白质脑病伴轴索球样变与神经胶质色素沉着","synonyms":["成人发病的脑白质病伴轴突球体和色素性胶质细胞"],"definition":"伴有球形轴突和神经胶质细胞色素沉着的遗传性弥漫性白质脑病是一种罕见的常染色体显性遗传病，其特征是进行性痴呆、失用症、冷漠、平衡障碍、帕金森氏症、痉挛和癫痫。"},"tr":{"name":"Aksonal sferoidler ve pigmentli glia ile kalıtsal yaygın lökoensefalopati","synonyms":["ALSP","FPSG","GPSC","HDLS","POLD","Neumann'ın subkortikal gliozu","Ailesel demans, Neumann tipi","Ailesel ilerleyici subkortikal glioz","Pigmenter ortokromatik lökodistrofi","Sferoidler ile seyreden kalıtsal yaygın lökoensefalopati","Nöroaksonal sferoidler ile seyreden otozomal dominant lökoensefalopati","Aksonal sferoidler ve pigmentli glia ile seyreden erişkin başlangıçlı lökoensefalopati"]}},"xrefs":[{"source":"OMIM","code":"221820","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0800027","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580150","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3711381","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10981","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":68356,"name":"Leukodystrophy","classifications":[156,181]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[],"genes":[{"symbol":"AARS2","name":"alanyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27749956[PMID]","hgnc":"21022","ensembl":"ENSG00000124608","omim":"612035","loci":["6p21.1"]},{"symbol":"CSF1R","name":"colony stimulating factor 1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22197934[PMID]","hgnc":"2433","ensembl":"ENSG00000182578","omim":"164770","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":27.0,"area":"Worldwide","status":"Validated","source":"22197934[PMID]_10668715[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}