Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series

摘要: Background Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which characterised by the presence of axonal loss, and variably present pigmented macrophages on pathological examination. It most frequently presents in adulthood dementia personality change. HDLS has recently been found to be caused mutations colony stimulating factor-1 receptor ( CSF1R ) gene. Methods In this study, we sequenced gene cohort 48 patients from UK, Greece Ireland unknown cause. Results Five pathogenic were found, including three novel mutations. The presentations ranged suspected central nervous system (CNS) vasculitis extrapyramidal cognitive phenotypes. case histories imaging are presented here, addition neuropathological findings two cases Conclusion We estimate that account for 10% idiopathic leukodystrophies genetic testing essential presenting undefined CNS or prominent neuropsychiatric signs dementia.