CADASIL: skin biopsy allows diagnosis in early stages
M. Ebke
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
Search for more papers by this authorM. Dichgans
Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany
Search for more papers by this authorM. Bergmann
Institute of Clinical Neuropathology, Zentralkrankenhaus Bremen-Ost, Bremen
Search for more papers by this authorH. U. Voelter
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
Search for more papers by this authorP. Rieger
Institute of Neuroradiology, Zentralkrankenhaus Bremen-Ost, Bremen
Search for more papers by this authorT. Gasser
Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany
Search for more papers by this authorCorresponding Author
G. Schwendemann
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
G, Schwendemann, Department of Neurology, Zentralkrankenhaus Bremen-Ost, Züricher Str. 40, 28325 Bremen, GermanySearch for more papers by this authorM. Ebke
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
Search for more papers by this authorM. Dichgans
Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany
Search for more papers by this authorM. Bergmann
Institute of Clinical Neuropathology, Zentralkrankenhaus Bremen-Ost, Bremen
Search for more papers by this authorH. U. Voelter
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
Search for more papers by this authorP. Rieger
Institute of Neuroradiology, Zentralkrankenhaus Bremen-Ost, Bremen
Search for more papers by this authorT. Gasser
Department of Neurology, Klinikum Großhadern, Ludwig-Maximilians-University, Munich, Germany
Search for more papers by this authorCorresponding Author
G. Schwendemann
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany
G, Schwendemann, Department of Neurology, Zentralkrankenhaus Bremen-Ost, Züricher Str. 40, 28325 Bremen, GermanySearch for more papers by this authorAbstract
Objectives - Our aim was to investigate the diagnostic impact of skin biopsies in CADASIL patients. Materials and methods - Eight consenting CADASIL patients belonging to a German-Caucasian kindred were assessed clinically, genetically, by MRI and skin biopsy. Skin biopsy results were compared to 5 patients suffering from sporadic leucoencephalopathies (control group). Results - Six CADASIL patients presented with symptoms ranging from migraine to severe tetraparesis with dementia. Two clinically unaffected patients had abnormal MRIs. On MRI 7 patients showed various degrees of leucoencephalopathy. One 22-year-old woman with migraine had a normal MRI. Granular, electron dense, osmiophilic material (GEM) was found in skin biopsies of all 8 patients including the 22-year-old woman with migraine and a normal MRI. As shown by genetic linkage analysis she was carrying the disease haplotype. GEM was not found in the control group. Conclusion - Our findings substantiate the impact of skin biopsies in defining the carrier status in CADASIL families.
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