Article
Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
JAMA neurology - 1 Dec 2016
Lynch David S, Zhang Wei Jia, Lakshmanan Rahul, Kinsella Justin A, Uzun Günes Altiokka, Karbay Merih, Tüfekçioglu Zeynep, Hanagasi Hasmet, Burke Georgina, Foulds Nicola, Hammans Simon R, Bhattacharjee Anupam, Wilson Heather, Adams Matthew, Walker Mark, Nicoll James A R, Chataway Jeremy, Fox Nick, Davagnanam Indran, Phadke Rahul, Houlden Henry
Abstract excerpt
IMPORTANCE: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a...
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