Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

摘要: Background and purpose The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult-onset leukoencephalopathy with axonal spheroids pigmented glia (ALSP) have been only partially elucidated. Methods Clinical data from CSF1R mutation carriers who had seen at our institutions or reported elsewhere were collected analysed using a specific investigation sheet to standardize the data. Results In all, 122 cases 90 families mutations identified. The mean age onset was 43 years (range 18–78 years), death 53 23–84 years) disease duration 6.8 1–29 years). Women significantly younger than men (40 vs. 47 years, P = 0.0006, 95% confidence interval 3.158–11.177). There an age-dependent penetrance that different between sexes (P 0.0013). Motor dysfunctions most frequent initial symptom in women whose diseases began their 20s. Thinning corpus callosum, abnormal signalling pyramidal tracts, diffusion-restricted lesions calcifications white matter characteristic imaging findings ALSP. more frequently case series literature (54% 3%). Seventy-nine per cent located distal part tyrosine kinase domain (102 cases). no apparent phenotype−genotype correlations. Conclusions The ALSP clarified. phenotype caused by is affected sex.