Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.

@article{Kaneko2010NasuHakolaDT,
  title={Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.},
  author={Minoru Kaneko and Kenji Sano and Jun Nakayama and Naoji Amano},
  journal={Neuropathology : official journal of the Japanese Society of Neuropathology},
  year={2010},
  volume={30 5},
  pages={
          463-70
        }
}
Nasu-Hakola disease (NHD) was first reported separately by Nasu and Hakola around the same time in the 1970s. It is an autosomal recessive inherited disorder characterized by progressive dementia and repeated pathological fractures during adolescence. It has recently been demonstrated that NHD is caused by a mutation in the TREM2 or DAP12 gene. The present paper demonstrates the first patient reported by Nasu and reviews NHD. The patient was a man who died at the age 38 years. His family… CONTINUE READING

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Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease

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TREM2 in Neurodegenerative Diseases

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The TREM2-DAP12 signaling pathway in Nasu–Hakola disease: a molecular genetics perspective

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