leukoencephalopathy, diffuse hereditary, with spheroids 1
Findings
No curated finding names leukoencephalopathy, diffuse hereditary, with spheroids 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.
Definition from the Mondo Disease Ontology (MONDO:0800027), read 2026-09-29. CC BY 4.0.
- Onset and course
- Middle age onset · Late young adult onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corpus callosum atrophyHPOHP:0007371
- 3 of 3 reported patients
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- DysphagiaHPOHP:0002015
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- Global brain atrophyHPOHP:0002283
- 3 of 3 reported patients
- Impaired executive functioningHPOHP:0033051
- 3 of 3 reported patients
- Memory impairmentHPOHP:0002354
Show the remaining 1
- Central nervous system axonal spheroidHPOHP:0034381
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CSF1RHGNC:2433
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- AARS2HGNC:21022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
16 names
Resolves to: leukoencephalopathy, diffuse hereditary, with spheroids 1
- Also called
- Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented GliaALSPautosomal dominant leukoencephalopathy with neuroaxonal spheroidsCSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaCSF1R-related ALSPdementia, familial, Neumann typefamilial dementia, Neumann typefamilial progressive subcortical gliosisFPSGgliosis, familial progressive subcorticalGPSCleukoencephalopathy with neuroaxonal spheroids, autosomal dominantleukoencephalopathy, adult-onset, with axonal spheroids and pigmented gliapigmentary orthochromatic leukodystrophy