Leukoencephalopathy caused by a 17p13.3 microdeletion

In this report, we describe a novel phenotype of extensive, confluent, paucisymptomatic adult-onset leukoencephalopathy in adults caused by a 248 kb microdeletion of 17p13.3, which unlike other similar microdeletion syndromes has no impact on psychomotor development and has not been associated with any syndromic or extraneurological features so far. Case descriptions The proband (patient...

Source: Journal of Neurology, Neurosurgery and Psychiatry - February 14, 2024 Category: Neurosurgery Authors: Wade, C., Williams, T., Labrum, R., Patel, Y., Cali, E., Davagnanam, I., Adams, M. E., Barkhof, F., Murphy, E., Chataway, J., Houlden, H., Lynch, D. S. Tags: Open access PostScript Source Type: research