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CADASIL: skin biopsy allows diagnosis in early stages
M Ebke1, M Dichgans, M Bergmann
1Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany.
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.