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Stroke. 2015 Jun;46(6):1548-53. doi: 10.1161/STROKEAHA.114.008548. Epub 2015 Apr 21.

Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.

Collaborators (284)

Rolfs A, Ginsberg M, Hennerici M, Kessler C, Kolodny EH, Martus P, Norrving B, Ringelstein E, Rothwell PM, Venables G, Bornstein NM, de Deyn PP, Dichgans M, Fazekas F, Markus H, Riess O, Böttcher T, Brüderlein K, König F, Makowei G, Niemann D, Rösner S, Zielke S, Grittner U, Holzhausen M, Enzinger C, Schmidt R, Ropele S, Windisch M, Sterner E, Bodamer O, Fellgiebel A, Hillen U, Jansen T, Jonas L, Kampmann C, Kropp P, Lackner K, Laue M, Mascher H, Paschke E, Weidemann F, Schrotter G, Krenn U, Horner S, Pendl B, Trummer U, Willeit J, Furtner M, Spiegel M, Knoflach MH, Prantl B, Weber JR, Marecek SM, Aichner F, Haring HP, Bach E, Lardurner G, Sulzer C, Zerbs A, Lilek S, Walleczek AM, Sinadinowska D, Lang W, Kristoferitsch W, Ferrari J, Ulrich E, Flamm-Horak A, Lischka-Lindner A, Schreiber W, De Deyn PP, Sheorajpanday R, De Brabander I, Yperzeele L, Brouns R, Thijs V, Lemmens R, Marcelis E, Hulsbosch C, Demarin V, Trkanjec Z, Bosnar-Puretic M, Jurašić MJ, Kes VB, Budisic M, Kopacevic L, Krieger DW, Boysen G, Jeppesen LL, Petersen A, Tatlisumak T, Putaala J, Curtze S, Metso M, Derex L, Cho TH, Nighoghossian N, Janelidze M, Beridze M, Lobjanidze N, Dzagnidze A, Berrouschot J, Stoll A, Rokicha A, Sternitzky C, Thomä M, Oschmann P, Pott M, Schultes K, Schultze C, Hirsekorn J, Nabavi DG, Crome O, Bähr D, Jungehülsing GJ, Villringer A, Schmidt W, Liman T, Nowe T, Ebinger M, Wille A, Loui H, Objartel A, Übelacker A, Mette R, Jegzentis K, Ebke M, Platte B, Kleinen C, Günther KM, Heide W, Pape O, Hanssen JR, Stangenberg D, Klingelhöfer J, Schmidt B, Schwarz S, Schwarze J, Frandlih L, Iwanow J, Steinbach I, Reichmann H, Becker U, Dzialkowski I, Hentschel H, Lautenschläger C, Hanso H, Gahn G, Ziemssen T, Fleischer K, Sehr B, Wartenberg K, Jander S, Hartung HP, Siebler M, Böttcher C, Köhne A, Platzen J, Brosig TC, Rothhammer V, Henseler C, Neumann-Haefelin T, Singer OC, Ermis U, Santos MR, Schuhmann C, van de Loo S, Kaps M, Allendörfer J, Tanislav C, Brandtner M, Chatzopoulos M, von Sarnowski B, Schminke U, Link T, Khaw AV, Nieber E, Zierz S, Müller T, Wegener N, Gaul C, Richter D, Rosenkranz M, Krützelmann AC, Hoppe J, Narr S, Magnus TU, Thomalla G, Leypoldt F, Otto D, Lichy C, Hacke W, Barrows RJ, Witte OW, Brämer D, Günther A, Prell T, Herzau C, Aurich K, Deuschl G, Wodarg F, Zimmermann P, Eschenfelder C, Levsen M, Schneider D, Michalski D, Kloppig W, Küppers-Tiedt L, Schneider M, Schulz A, Matzen P, Weise C, Hobohm C, Meier H, Langos R, Urban D, Gerhardt I, Hamer H, Metz A, Hallenberger K, Müller P, Jauss M, Adam L, Heidler F, Gube C, Kiszka M, Karpinska A, Mewald Y, Straub V, Dörr A, Zollver A, Schilling M, Borchert A, Preuth N, Duning T, Kuhlenbäumer G, Schulte D, Schlachetzki F, Boy S, Mädl J, Ertl GM, Fehm NP, Stadler C, Benecke R, Dudesek A, Kolbaske S, Melms A, Horber K, Fink I, Liske B, Ludolph AC, Huber R, Knauer K, Hendrich C, Raubold S, McCabe DJ, Tobin WO, Kinsella JA, Murphy RP, Baron P, Bersano A, Gattinoni M, Vella N, Mallia M, Czlonkowska A, Baranowska A, Blazejewska-Hyzorek B, Candido JM, Amaral A, Lourenco M, de Sousa AI, Díez-Tejedor E, Fuentes B, Martínez-Sanchez P, Fernández-Dominguez P, Casarrubios MA, Pérez-Guevara MI, Muir K, Dani K, MacDougall N, Smith W, Rowe A, Welch A, Marquardt L.

Author information

1
From the Department of Neurology (F.F., C.E., R.S., S.R.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Graz, Austria; Department of Biostatistics and Clinical Epidemiology, Charité-Universitätsmedizin, Berlin, Germany (U.G.); Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany (A.-K.G., A.R.); Department of Neurology, Universitätsmedizin Mannheim, University of Heidelberg, Mannheim, Germany (M.G.H.); Department of Neurology, Klinikum Friedrichshafen, Friedrichshafen, Germany (R.H.); Department of Neurology, Jüdisches Krankenhaus, Berlin, Germany (G.J.J.); Center for Stroke Research Berlin (CSB), Charité Universitätsmedizin, Berlin, Germany (G.J.J.); Justus Liebig University, Giessen, Germany (M.K., C.T.); Department of Neurology, University Medicine Greifswald, Greifswald, Germany (C.K., B.v.S.); Institute for Biostatistics, University of Tübingen, Tübingen, Germany (P.M.); Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (T.T.); Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.); Department of Neurology, University Hospitals Leuven, Leuven, Belgium (V.T.); Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium (V.T.); VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium (V.T.); and Department of Clinical Neuroscience, Lund University Hospital, Lund, Sweden (B.N.). franz.fazekas@medunigraz.at.
2
From the Department of Neurology (F.F., C.E., R.S., S.R.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Graz, Austria; Department of Biostatistics and Clinical Epidemiology, Charité-Universitätsmedizin, Berlin, Germany (U.G.); Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany (A.-K.G., A.R.); Department of Neurology, Universitätsmedizin Mannheim, University of Heidelberg, Mannheim, Germany (M.G.H.); Department of Neurology, Klinikum Friedrichshafen, Friedrichshafen, Germany (R.H.); Department of Neurology, Jüdisches Krankenhaus, Berlin, Germany (G.J.J.); Center for Stroke Research Berlin (CSB), Charité Universitätsmedizin, Berlin, Germany (G.J.J.); Justus Liebig University, Giessen, Germany (M.K., C.T.); Department of Neurology, University Medicine Greifswald, Greifswald, Germany (C.K., B.v.S.); Institute for Biostatistics, University of Tübingen, Tübingen, Germany (P.M.); Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (T.T.); Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.); Department of Neurology, University Hospitals Leuven, Leuven, Belgium (V.T.); Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium (V.T.); VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium (V.T.); and Department of Clinical Neuroscience, Lund University Hospital, Lund, Sweden (B.N.).

Abstract

BACKGROUND AND PURPOSE:

Fabry disease (FD) may cause stroke and is reportedly associated with typical brain findings on magnetic resonance imaging (MRI). In a large group of young patients with an acute cerebrovascular event, we wanted to test whether brain MRI findings can serve to suggest the presence of FD.

METHODS:

The Stroke in Young Fabry Patients (SIFAP 1) study prospectively collected clinical, laboratory, and radiological data of 5023 patients (18-55 years) with an acute cerebrovascular event. Their MRI was interpreted centrally and blinded to all other information. Biochemical findings and genetic testing served to diagnose FD in 45 (0.9%) patients. We compared the imaging findings between FD and non-FD patients in patients with at least a T2-weighted MRI of good quality.

RESULTS:

A total of 3203 (63.8%) patients had the required MRI data set. Among those were 34 patients with a diagnosis of FD (1.1%), which was definite in 21 and probable in 13 cases. The median age of patients with FD was slightly lower (45 versus 46 years) and women prevailed (70.6% versus 40.7%; P<0.001). Presence or extent of white matter hyperintensities, infarct localization, vertebrobasilar artery dilatation, T1-signal hyperintensity of the pulvinar thalami, or any other MRI finding did not distinguish patients with FD from non-FD cerebrovascular event patients. Pulvinar hyperintensity was not present in a single patient with FD but seen in 6 non-FD patients.

CONCLUSIONS:

Brain MRI findings cannot serve to suspect FD in young patients presenting with an acute cerebrovascular event. This deserves consideration in the search for possible causes of young patients with stroke.

CLINICAL TRIAL REGISTRATION:

URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583.

KEYWORDS:

Fabry disease; cerebrovascular accident, acute; magnetic resonance imaging

PMID:
25899239
DOI:
10.1161/STROKEAHA.114.008548
[Indexed for MEDLINE]

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