CADASIL: skin biopsy allows diagnosis in early stages
- 1 June 1997
- journal article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 95 (6) , 351-357
- https://doi.org/10.1111/j.1600-0404.1997.tb00224.x
Abstract
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.Keywords
This publication has 17 references indexed in Scilit:
- Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementiaNature, 1996
- Notch, stroke and dementiaNature, 1996
- New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.Journal of Neurology, Neurosurgery & Psychiatry, 1995
- Clinical spectrum of CADASIL: a study of 7 familiesThe Lancet, 1995
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a clinicopathological and genetic study of a Swiss family.Journal of Neurology, Neurosurgery & Psychiatry, 1995
- Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)Acta Neuropathologica, 1995
- Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathyActa Neuropathologica, 1995
- Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL.Stroke, 1994
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12Nature Genetics, 1993
- Hereditary multi-infarct dementiaActa Neuropathologica, 1977