Article
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.
Acta neuropathologica communications - 4 Jul 2015
Robinson John L, Suh EunRan, Wood Elisabeth M, Lee Edward B, Coslett H Branch, Raible Kevin, Lee Virginia M-Y, Trojanowski John Q, Van Deerlin Vivianna M
Abstract excerpt
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) presents with a variety of clinical phenotypes including motor impairments such as gait dysfunction, rigidity, tremor and bradykinesia as well as cognitive deficits including personality changes and dementia. In recent years, colony stimulating factor 1 receptor gene (CSF1R) has been identified as the primary genetic cause of HDLS. We describe the...
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