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Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
Disease 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.
ORPHA:313808
Classification level: Disorder- Synonym(s):
- ALSP
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- 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
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: E75.2
- OMIM: 221820
- UMLS: C3711381
- MeSH: C580150
- GARD: 10981
- MedDRA: -
A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014)
Detailed information
General public
- Article for general public
- Svenska (2018) - Socialstyrelsen
Guidelines
- Clinical practice guidelines
- Deutsch (2022) - AWMF
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.