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01-09-2016 | Update in Clinical Neurogenetics

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

Authors: Carmen Stabile, Ilaria Taglia, Carla Battisti, Silvia Bianchi, Antonio Federico

Published in: Neurological Sciences | Issue 9/2016

Abstract

Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental and motor dysfunctions. Patients carry mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1R) which is a tyrosine kinase receptor essential for microglia development. To date, more than 50 pathogenic variants have been reported in patients with HDLS, including missense, frameshift and non-sense mutations, but also deletions and splice-site mutations, all located in the intracellular tyrosine kinase domain, encoded by exons 12–22. The aim of this paper is to review the literature data about the molecular genetic pattern of HDLS.

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Title: Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics
Authors: Carmen Stabile
Ilaria Taglia
Carla Battisti
Silvia Bianchi
Antonio Federico
Publication date: 01-09-2016
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 9/2016
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-016-2634-6

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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics

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