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September 29, 2016European Journal of NeurologyOpen Access

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

Takuya Konno Kunihiro Yoshida Toshiki Mizuno Toshitaka Kawarai Masayoshi Tada Hiroaki Nozaki Shu‐ichi Ikeda Masatoyo Nishizawa Osamu Onodera Z. Wszolek Takeshi Ikeuchi

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Abstract

The characteristics of ALSP were clarified. The phenotype of ALSP caused by CSF1R mutations is affected by sex.

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Cite This Study

Konno et al. (2016) studied this question.

synapsesocial.com/papers/69d6c0fdf174babf6cab35db https://doi.org/10.1111/ene.13125

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1<i>CSF1R</i> mutations link POLD and HDLS as a single disease entityCase Report · 2013 · 162 citations
2Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1ROriginal Research · 2013 · 36 citations
3A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosisOriginal Research · 2013 · 47 citations
4Sporadic hereditary diffuse leukoencephalopathy with axonal spheroids showing numerous lesions with restricted diffusivity caused by a novel splice site mutation in the CSF 1R geneOriginal Research · 2013 · 7 citations
5Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLSCohort Study · 2013 · 129 citations

More related papers

Corpus Callosum Atrophy in Patients with Hereditary Diffuse Leukoencephalopathy with Neuroaxonal Spheroids: An MRI-based Study2013
Hereditary Diffuse Leukoencephalopathy with Spheroids Characterized by Spastic Hemiplegia Preceding Mental Impairment2014
A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression2015

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