Clinical characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS)

Takuya Konno¹⁾, Takeshi Ikeuchi²⁾

¹⁾Department of Neurology, Mayo Clinic
²⁾Department of Molecular Genetics, Brain Research Institute, Niigata University

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult-onset leukoencephalopathy with autosomal dominant inheritance. Mutations in colony stimulating factor 1 receptor (CSF1R) cause HDLS. Before discovery of the causative gene, HDLS was largely underdiagnosed because neuropathological analysis was necessary for the diagnosis. However, since identification of the gene, HDLS has been increasingly recognized across the world, and some interesting observations have been reported. The mean age of onset in women is significantly younger than in men. In addition, unique small brain calcifications can be seen on brain CT scans, which appear to be specific to HDLS. These findings may help with clinically diagnosing this disease. In this review, we summarize the clinical characteristics of HDLS with CSF1R mutations.

Address correspondence to Dr. Takeshi Ikeuchi, Department of Molecular Genetics, Brain Research Institute, Niigata University (1-757 Asahimachi, Niigata 951-8585, Japan)