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Medline ® Abstract for Reference 90

of 'Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)'

CADASIL: skin biopsy allows diagnosis in early stages.
Ebke M, Dichgans M, Bergmann M, Voelter HU, Rieger P, Gasser T, Schwendemann G
Acta Neurol Scand. 1997;95(6):351.
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.
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany.