Article
A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.
Neurobiology of aging - 1 May 2017
Dardiotis Efthimios, Siokas Vasileios, Pantazi Eva, Dardioti Maria, Rikos Dimitrios, Xiromerisiou Georgia, Markou Aikaterini, Papadimitriou Dimitra, Speletas Matthaios, Hadjigeorgiou Georgios M
Abstract excerpt
Nasu-hakola disease (NHD) is a rare disease characterized by bone cysts and fractures, frontal lobe syndrome, and progressive presenile dementia. NHD may be the prototype of primary microglial disorders of the CNS or, as they have been coined, "microgliopathies". Mutations in TREM2 and TYROBP genes are known to cause NHD. Interestingly, recent evidence-associated rare genetic variants of TREM2 gene with increased...
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