ORPHA:313808
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
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
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | 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 |
| fr | Leucoencéphalopathie héréditaire diffuse à sphéroïdes axonaux et cellules gliales pigmentées | 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 |
| de | Hereditäre diffuse Leukoenzephalopathie mit axonalen Sphäroiden und pigmentierter Glia | 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 |
| es | Leucoencefalopatía difusa hereditaria con esferoides axonales y células gliales pigmentadas | 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 |
| it | Leucoencefalopatia diffusa ereditaria con sferoidi assonali e nevroglia pigmentata | 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 | Erfelijke diffuse leuko-encefalopathie met axonale sferoïden en gepigmenteerde glia | 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 |
| pt | Leucoencefalopatia de inicio na idade adulta com esferóides axonais e glia pigmentada | ALSP · HDLS · Leucodistrofia ortocromática pigmentar · Leucoencefalopatia autossómica dominante com esferóides neuroaxonais · Leucoencefalopatia difusa hereditária com esferóides · POLD |
| pl | Dziedziczna rozlana leukoencefalopatia ze sferoidami aksonalnymi i pigmentacją gleju | 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 |
| cs | Hereditární difuzní leukoencefalopatie s axonálními sferoidy a pigmentovanou glií | 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 | Лейкоенцефалопатія у дорослих з аксональними сфероїдами та пігментованою глією | 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 |
| zh | 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 | 成人发病的脑白质病伴轴突球体和色素性胶质细胞 |
| tr | Aksonal sferoidler ve pigmentli glia ile kalıtsal yaygın lökoensefalopati | 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 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221820 | E | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0800027 | E | validated | |
| MeSH | C580150 | E | validated | |
| UMLS | C3711381 | E | validated | |
| GARD | 10981 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AARS2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21022 | ENSG00000124608 | 612035 | 6p21.1 | alanyl-tRNA synthetase 2, mitochondrial | 27749956[PMID] |
| CSF1R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2433 | ENSG00000182578 | 164770 | 5q32 | colony stimulating factor 1 receptor | 22197934[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 22197934[PMID]_10668715[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/313808
- This record as JSON: /data/d/313808.json