CADASIL: skin biopsy allows diagnosis in early stages.
OBJECTIVE
Our aim was to investigate the diagnostic impact of skin biopsies in CADASIL patients.


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.


CONCLUSIONS
Our findings substantiate the impact of skin biopsies in defining the carrier status in CADASIL families.
Ebke
M
M
Department of Neurology, Zentralkrankenhaus Bremen-Ost, Bremen, Germany.
Dichgans
M
M
Bergmann
M
M
Voelter
H U
HU
Rieger
P
P
Gasser
T
T
Schwendemann
G
G
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001706:Biopsy; D001921:Brain / Q000473:pathology; D016022:Case-Control Studies; D002888:Chromosomes, Human, Pair 19; D015161:Dementia, Multi-Infarct / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D005819:Genetic Markers; D005858:Germany; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000209:etiology; D009131:Muscle, Smooth, Vascular / Q000473:pathology* / Q000648:ultrastructure; D010375:Pedigree; D012680:Sensitivity and Specificity; D012867:Skin / Q000098:blood supply / Q000473:pathology* / Q000648:ultrastructure
D005819:Genetic Markers