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.
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.
Authors: Saara Tikka; Kati Mykkänen; Marie-Magdeleine Ruchoux; Robert Bergholm; Maija Junna; Minna Pöyhönen; Hannele Yki-Järvinen; Anne Joutel; Matti Viitanen; Marc Baumann; Hannu Kalimo Journal: Brain Date: 2009-01-27 Impact factor: 13.501