Leukoencephalopathy, diffuse hereditary, with spheroids 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Definition
A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Also known as Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia, ALSP, autosomal dominant leukoencephalopathy with neuroaxonal spheroids, CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, CSF1R-related ALSP, dementia, familial, Neumann type, familial dementia, Neumann type, familial progressive subcortical gliosis, FPSG, gliosis, familial progressive subcortical, GPSC, leukoencephalopathy with neuroaxonal spheroids, autosomal dominant, leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia, pigmentary orthochromatic leukodystrophy, POLD, subcortical gliosis of Neumann — per MONDO
Also identified as
- DOID 0080523 per MONDO
- ICD9 323.81 per MONDO
- MESH C580150 per MONDO
- NCIT C153289 per MONDO
- OMIM 221820 per MONDO
- Orphanet 313808 per MONDO
- SCTID 702427005 per MONDO
- UMLS C5561929 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Brain | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |