Abstract Details

Title Diagnosis of Adult Onset Leukodystrophy in a Consecutive Study of 156 Patients

Topic MS and Related Diseases

Presentation(s) S60 - (-)

Poster/Presentation
Number 006

Objective

Background Leukodystrophies are a rare and heterogeneous group of inherited disorders which usually occur during infancy. Patients with adult-onset are increasingly recognized. Systematic investigations of these patients are not clearly reported in the literature.

Design/Methods We have conducted a systematic study including all MS centers in France between January 2007 and July 2012. Inclusion criteria were: 1) symetrical involvement of white matter on the first available brain MRI, 2) age of onset above 16, 3) absence of acquired diseases. Classification was based on MRI patterns as vascular, metabolic, cavitary and unclassified. In each group, a systematic genetic and/or biochemical testing was realized.

Results Among 400 files, 156 patients with adult-onset leukodystrophy were identified. The mean age of onset was 39.3 (range 16-75) and a sex ratio imbalance was noted (male/female = 60/96). Main initial clinical symptoms were paraparesis (n=33), ataxia (n=31), cognitive decline (n=27), psychiatric symptoms (n=24) and stroke (n=20). Based on MRI findings, 54/156 were vascular, 17/156 cavitary, 52/156 metabolic. 33 patients were unclassified. A final diagnosis was made in 39/54 vascular cases (72.2 %). Main causes were CADASIL (n=30) and COL4A1 mutation (n=7). 9/17 (52.9 %) patients with a cavitary MRI had a diagnosis of CACH syndrome, with a pathogenic eIF2B mutation. 30/52 (57.7 %) of patients with metabolic MRI had a diagnosis. Main causes were X-linked adrenoleukodystrophy (n=11/52), cerebrotendinous xanthomatosis (n=4/52), Krabbe disease (n= 2/52) and SPG 11 mutation (n=2/52). Among 33 patients with unclassified MRI pattern, a diagnosis was made in 39.4% (n=13 / 33).

Conclusions Adult-onset leukodystrophies are considered as rare. Utility of MRI classification is confirmed by our study with a final diagnosis rate of 58.3 % (91/156) cases.

Authors/Disclosures
Pierre Labauge, MD PRESENTER	Dr. Labauge has nothing to disclose.
Clarisse Carra-Dalliere	No disclosure on file
Xavier Ayrignac	Xavier Ayrignac has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Jean Pelletier, MD, PhD (Dpt of Neurology, CHU Timone)	Dr. Pelletier has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Nicolas Collongues, MD (Hopital Civil)	Nicolas Collongues, MD has nothing to disclose.
Eloi Magnin (CHU Jean Minjoz)	No disclosure on file
Lucien Rumbach, MD (Hopital Jean Minjoz)	No disclosure on file
Christian Confavreux, MD (Hospital Antiquaille)	No disclosure on file
Sandra Vukusic, MD (Hopital Neurologique Pierre Wertheimer)	The institution of Dr. Vukusic has received research support from Biogen. The institution of Dr. Vukusic has received research support from Janssen. The institution of Dr. Vukusic has received research support from Merck. The institution of Dr. Vukusic has received research support from Novartis. The institution of Dr. Vukusic has received research support from Roche.
	No disclosure on file
Mikael Cohen (Hopital Pasteur)	Mikael Cohen has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen, Roche, Merck, Ad scientiam, Novartis, Alexion, BMS.
Christine Lebrun Frenay, MD, FAAN (CRCSEP Neurologie)	Dr. Lebrun Frenay has received personal compensation in the range of $0-$499 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Revue Neurologique.
	No disclosure on file
Michel G. Clanet, Prof	No disclosure on file
Patrick Vermersch (CHR de Lille)	Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Merck. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Teva. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AB Science. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Imcyse. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BMS-Celgene. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Ad Scientiam. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Teva. Patrick Vermersch has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for La revue des microbiotes. The institution of Patrick Vermersch has received research support from Roche. The institution of Patrick Vermersch has received research support from Sanofi.
	No disclosure on file
Olivier Outteryck	Olivier Outteryck has nothing to disclose.
	No disclosure on file
Sara El Alaoui	No disclosure on file
Bruno Brochet, MD, FEAN (University of Bordeaux)	Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for celgene. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for jansen. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for biogen. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for novartis. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for merck. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for biogen. Prof. Brochet has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for celgene.
	No disclosure on file
Christian Denier (Centre Hospitalier De Bicetre)	No disclosure on file
Marc Debouverie, MD (Hospital Central)	Dr. Debouverie has nothing to disclose.
Sophie Pittion (Hopital Central/ Service Du Pr Vespignani)	Sophie Pittion has nothing to disclose.
Gilles Edan, MD	No disclosure on file
	No disclosure on file
Christophe Verny (CHU Charcot)	No disclosure on file
Patrizia Amati-Bonneau (Departement de Biochimie et Genetique)	No disclosure on file
Dominique Bonneau (Departement de Biochimie et Genetique)	No disclosure on file
Didier Hannequin, MD (Hospital Charles Nicolle)	No disclosure on file
	No disclosure on file
Nathalie Derache (Hopital Cote De Nacre)	Nathalie Derache has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MERCK. Nathalie Derache has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MERCK. Nathalie Derache has received personal compensation in the range of $500-$4,999 for serving as a Consultant for BMS.
	No disclosure on file
Maurice Giroud	No disclosure on file
Anne Marie Guennoc	Anne Marie Guennoc has nothing to disclose.
Pierre Clavelou, MD, PhD (Hopital Gabriel Montpied)	Dr. Clavelou has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Clavelou has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Janssen. Dr. Clavelou has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck.
Frederic Taithe (CHU Gabriel Montpied)	No disclosure on file
	No disclosure on file
Laurent Magy, MD (Chru Dupeytren, Neurology Dept)	No disclosure on file
Jean Louis Devoize, MD (Girac Hospital)	No disclosure on file
Marc F. Bataillard, MD (Hopitaux Universitaires De Strasbourg)	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file

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