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Background and purpose  The clinical characteristics of  colony stimulating factor 1 receptor  (  CSF 1R)  related adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia ( ALSP ) have been only partially elucidated.    Methods  Clinical data from   CSF 1R  mutation carriers who had been seen at our institutions or reported elsewhere were collected and analysed using a specific investigation sheet to standardize the data.    Results  In all, 122 cases from 90 families with   CSF 1R  mutations were identified. The mean age of onset was 43 years (range 18–78 years), the mean age at death was 53 years (range 23–84 years) and the mean disease duration was 6.8 years (range 1–29 years). Women had a significantly younger age of onset than men (40 vs. 47 years,  P  = 0.0006, 95% confidence interval 3.158–11.177). There was an age‐dependent penetrance that was significantly different between the sexes ( P  = 0.0013). Motor dysfunctions were the most frequent initial symptom in women whose diseases began in their 20s. Thinning of the corpus callosum, abnormal signalling in pyramidal tracts, diffusion‐restricted lesions and calcifications in the white matter were characteristic imaging findings of  ALSP . The calcifications were more frequently reported in our case series than in the literature (54% vs. 3%). Seventy‐nine per cent of the mutations were located in the distal part of the tyrosine kinase domain of   CSF 1R  (102 cases). There were no apparent phenotype−genotype correlations.    Conclusions  The characteristics of  ALSP  were clarified. The phenotype of  ALSP  caused by   CSF 1R  mutations is affected by sex.

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF 1R mutation