Nasu-Hakola disease
Evidence-based neurology checklist on nasu-hakola disease: Genetics and pathology This is caused by mutations in the DAP12 and TREM2 genes The transmission is autosomal recessive The mutation results in β amyloid deposition in the brain The onset is in the third decade Stages Other features…
Genetics and pathology
- This is caused by mutations in the DAP12 and TREM2 genes
- The transmission is autosomal recessive
- The mutation results in β amyloid deposition in the brain
- The onset is in the third decade
Stages
Other features
Magnetic resonance imaging (MRI): features
Synonym
Acronyms
References
- Satoh J, Tabunoki H, Ishida T, et al. Immunohistochemical characterization of microglia in Nasu-Hakola disease brains. Neuropathology 2011; 31:363-375.
- Bianchin MM, Capella HM, Chaves DL, et al. Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Cell Mol Neurobiol 2004; 24:1-24.
- Klünemann HH, Ridha BH, Magy L, et al. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology 2005; 64:1502-1507.
- Ghezzi L, Carandini T, Arighi A, et al. Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation. Neurology 2017; 89:2503-2505.
- Paloneva J, Autti T, Raininko R, et al. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 2001; 56:1552-1558.
