Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation

Johannes Levin; Steffen Tiedt; Thomas Arzberger; Saskia Biskup; Madeleine Schuberth; Gisela Stenglein-Krapf; Friedrich-Wilhelm Kreth; Tobias Högen; Christian la Fougère; Jennifer Linn; Marjo S van der Knaap; Armin Giese; Hans A Kretzschmar; Adrian Danek

doi:10.1016/j.clineuro.2014.04.022

Diffuse leukoencephalopathy with spheroids: biopsy findings and a novel mutation

Clin Neurol Neurosurg. 2014 Jul:122:113-5. doi: 10.1016/j.clineuro.2014.04.022. Epub 2014 May 4.

Affiliations

¹ Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany. Electronic address: Johannes.levin@med.uni-muenchen.de.
² Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.
³ Center for Neuropathology and Prion Research, Ludwig-Maximilians-Universität, Munich, Germany.
⁴ Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany; German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Germany; CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
⁵ Department of Neurosurgery, Ludwig-Maximilians-Universität, Munich, Germany.
⁶ Department of nuclear medicine, Ludwig-Maximilians-Universität, Munich, Germany.
⁷ Department of Neuroradiology, Ludwig-Maximilians-Universität, Munich, Germany.
⁸ Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands.
⁹ Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany; German Research Center for Neurodegenerative Diseases (DZNE), Ludwig-Maximilians-Universität, Munich, Germany.

PMID: 24908228
DOI: 10.1016/j.clineuro.2014.04.022

No abstract available

Keywords: Brain biopsy; Colony-stimulating factor 1 receptor; Hereditary diffuse leukencephalopathy with axonal spheroids; Magnetic resonance imaging; Pigmented orthochromatic leukodystrophy.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
Gliosis / congenital*
Gliosis / diagnosis
Gliosis / genetics
Gliosis / pathology
Humans
Leukoencephalopathies* / diagnosis
Leukoencephalopathies* / genetics
Leukoencephalopathies* / pathology
Male
Middle Aged
Receptor, Macrophage Colony-Stimulating Factor / genetics*

Substances

Receptor, Macrophage Colony-Stimulating Factor

Supplementary concepts

Hereditary Diffuse Leukoencephalopathy with Spheroids