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Document type:
journal article 
Author(s):
Schuberth, M; Levin, J; Sawalhe, D; Schwarzkopf, R; von Baumgarten, L; Ertl-Wagner, B; Rominger, A; Arzberger, T; Kretzschmar, H A; Froböse, T; Diehl-Schmid, J; Biskup, S; Danek, A 
Title:
[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment]. 
Abstract:
Hereditary diffuse leukencephalopathy with spheroids (HDLS) is a rare progressive form of leukodystrophy with variable clinical presentation and little known pathophysiology. Characteristic pathological features at brain biopsy or postmortem can support the diagnosis. The genetic basis of HDLS was elusive until 2011 when mutations in the colony-stimulating factor 1 receptor (CSF1R) gene were identified as the cause. Mutations in the CSF1R gene had previously been associated with tumor developmen...    »
 
Journal title abbreviation:
Nervenarzt 
Year:
2014 
Journal volume:
85 
Journal issue:
Pages contribution:
465-70 
Language:
de 
Print-ISSN:
0028-2804 
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie