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Abstract Details

The Queen Square Adult Leukodystrophy Group: 10 years-experience of a multidisciplinary diagnostic service
General Neurology
P10 - Poster Session 10 (8:00 AM-9:00 AM)
12-006

When extensive white matter abnormalities are detected on MRI scans it represents the start of a common and occasionally complex diagnostic challenge for even the most experienced neurologist. While straightforward investigations can reveal an acquired cause, many cases have a genetic aetiology (a leukodystrophy) and regardless, specialist input is often needed to advance diagnosis. Here, we describe the experience of our UK-wide MDT; our recommended approach including when to suspect a genetic disorder, and outcomes following MDT discussion.

A retrospective review of the 302 patients discussed in the Queen Square Adult Leukodystrophy Group (QSALG); a tertiary-centre, multidisciplinary team (MDT) of neurologists, neuroradiologists and metabolic physicians who review the clinical presentations, investigations, and neuroimaging of adults with suspected inherited white matter disorders referred from throughout the UK and abroad.

A review of all patients with white matter abnormalities discussed in the QSALG MDT from February 2012 to October 2022.  

Following MDT discussion and follow-up investigation, a definitive diagnosis was made in 179 cases (59.3%) and 37 cases (12.3%) were thought of as unsolvable. 86 patients (28.5%) have ongoing, open investigations. Of those receiving a diagnosis, a genetic diagnosis was made 42.46% of the time and the most common leukodystrophies diagnosed were CSF1R-related ALSP, adrenoleukodystrophy and vanishing white matter disease. Acquired causes were common, in particular small-vessel disease (aSVD) and multiple sclerosis (MS).

Here we report our experience and lessons learned in diagnosing difficult white matter disorders in the largest European cohort of such patients, with a doubling of the cohort since last reporting (ABN, 2019). Less than half of those referred as suspected leukodystrophy are then genetically confirmed. We describe a high instance of diagnosing acquired causes, emphasising that though most neurologists are of course familiar with these diagnoses, difficulties still arise with atypical presentations, or in end-stage disease.

Authors/Disclosures
Charles Louis Feinmann Wade, MBBS
PRESENTER
Dr. Wade has nothing to disclose.
Thomas Edward Williams, MD (Queen Square Multiple Sclerosis Centre) Dr. Williams has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Merck. Dr. Williams has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Dr. Williams has received research support from UK MS Society.
Aine P. Merwick, MD The institution of Dr. Merwick has received research support from Irish Institute of Clinical Neuroscience.
Rebekah M. Ahmed, MD Dr. Ahmed has nothing to disclose.
Justin Kinsella, MD (St.Vincent's University Hospital) Dr. Kinsella has nothing to disclose.
Frederik Barkhof, MD, PhD (Image Analysis Center) Frederik Barkhof has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Frederik Barkhof has received personal compensation in the range of $0-$499 for serving as a Consultant for Biogen. Frederik Barkhof has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Combinostics. Frederik Barkhof has received personal compensation in the range of $500-$4,999 for serving as a Consultant for IXICO. Frederik Barkhof has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Frederik Barkhof has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EISAI.
Nevin Alex John, MBBS (Monash Health) Dr. John has nothing to disclose.
Jason Warren The institution of Jason Warren has received research support from Alzheimer's Society.
Catherine Mummery Catherine Mummery has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Catherine Mummery has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for roche. Catherine Mummery has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for biogen.
Jonathan Schott, MD, FRCP, FEAN, FAAN (Dementia Research Centre) Dr. Schott has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Alzheimer's Research UK. Dr. Schott has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for UK Dementia Research Institute. Dr. Schott has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biogen. Dr. Schott has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for GE. Dr. Schott has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Oxford University Press.
Wallace Brownlee, MD Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Brownlee has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Sage.
Matthew Adams Matthew Adams has nothing to disclose.
Indran Davagnanam No disclosure on file
Henry Houlden Henry Houlden has nothing to disclose.
Elaine Murphy, MD (Charles Dent Metabolic Unit, National Hospital for Neurology) Dr. Murphy has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Recordati Rare Diseases Fondation d'Enterprise.
David S. Lynch, PhD, MBBS Dr. Lynch has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Vigil Neuroscience. Dr. Lynch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eli Lilly. Dr. Lynch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Vigil Neuroscience.
Jeremy S. Chataway, MD Dr. Chataway has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janseen. Dr. Chataway has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Chataway has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Chataway has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for NerveGen. Dr. Chataway has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis.