Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominantly inherited central nervous system white matter disease with variable clinical presentations including personality and behavioral changes, dementia, depression, parkinsonism, seizures, and others(1,2). We combined...

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Main Authors: Rademakers, Rosa, Baker, Matt, Nicholson, Alexandra M., Rutherford, Nicola J., Finch, NiCole, Soto-Ortolaza, Alexandra, Lash, Jennifer, Wider, Christian, Wojtas, Aleksandra, DeJesus-Hernandez, Mariely, Adamson, Jennifer, Kouri, Naomi, Sundal, Christina, Shuster, Elizabeth A., Aasly, Jan, MacKenzie, James, Roeber, Sigrun, Kretzschmar, Hans A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Cairns, Nigel J., Ghetti, Bernardino, Spina, Salvatore, Garbern, James, Tselis, Alexandros C., Uitti, Ryan, Das, Pritam, Van Gerpen, Jay A., Meschia, James F., Levy, Shawn, Broderick, Daniel F., Graff-Radford, Neill, Ross, Owen A., Miller, Bradley B., Swerdlow, Russell H., Dickson, Dennis W., Wszolek, Zbigniew K.
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267847/
https://ncbi.nlm.nih.gov/pubmed/22197934
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1027
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