Leukoencephalopathy caused by a 17p13.3 microdeletion

Charles Wade¹, Thomas Williams¹, Robyn Labrum², Yogen Patel², Elisa Cali³, Indran Davagnanam⁴, Matthew E Adams⁴, Frederik Barkhof^{1

4

5}, Elaine Murphy⁶, Jeremy Chataway^{1

7}, Henry Houlden³, David S Lynch⁸

Affiliations

¹ Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK.
² Rare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
³ Department of Neuromuscular Diseases, University College London, London, UK.
⁴ Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK.
⁵ Department of Radiology & Nuclear Medicine, Amsterdam UMC, Amsterdam, Netherlands.
⁶ Charles Dent Metabolic Unit, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK.
⁷ National Institute for Health Research, University College London Hospitals, Biomedical Research Centre, London, UK.
⁸ Department of Neuromuscular Diseases, University College London, London, UK david.lynch.13@ucl.ac.uk.

Comment

Charles Wade et al. J Neurol Neurosurg Psychiatry. 2024.

. 2024 Feb 14;95(3):290-292.

doi: 10.1136/jnnp-2023-331986.

¹ Department of Neuroinflammation, UCL Queen Square Institute of Neurology, London, UCL Queen Square Institute of Neurology, London, UK.
² Rare & Inherited Disease Laboratory, North Thames Genomic Laboratory Hub, London, UK.
³ Department of Neuromuscular Diseases, University College London, London, UK.
⁴ Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, National Hospital for Neurology and Neurosurgery, London, UK.
⁵ Department of Radiology & Nuclear Medicine, Amsterdam UMC, Amsterdam, Netherlands.
⁶ Charles Dent Metabolic Unit, University College London Hospitals NHS Foundation Trust National Hospital for Neurology and Neurosurgery, London, UK.
⁷ National Institute for Health Research, University College London Hospitals, Biomedical Research Centre, London, UK.
⁸ Department of Neuromuscular Diseases, University College London, London, UK david.lynch.13@ucl.ac.uk.

No abstract available

Keywords: genetics; neuroradiology.

Conflict of interest statement

Competing interests: None declared.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
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