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polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), presenile dementia with bone cysts; Nasu-Hakola disease
Epidemiology:
- ~160 cases, mainly in Finland & Japan
- onset third decade
Genetics:
1) autosomal recessive
2) mutations in TREM2 gene
3) defects in TYROBP
Pathology:
- basal ganglia calcification
- gliosis
- white matter demyelination
- senile plaques
- neurofibrillary tangles Clinical features:
- skeletal changes
- epiphyseal bone cysts, restricted to ankle & wrist
- polycystic osteodysplasia
- fracture predisposition
- neurologic
- dementia
- impairment of memory
- hyperreflexia
- euphoria
- agnostic-apractic-aphasic symptoms
- myoclonic twitches
- seizure
- psychosis
Differential diagnosis:
- Alzheimer's disease
- fibrous dysplasia of bone
Related
triggering receptor expressed on myeloid cells 2; triggering receptor expressed on monocytes 2 (TREM2)
General
genetic disease of the central nervous system
neurodegenerative disease
Database Correlations
OMIM correlations
MORBIDMAP 604142
References
OMIM :accession 221770