An additional monogenic disorder that masquerades as multiple sclerosis
- INSERM, Paris (France)
- Hopital Saint-Antoine, Paris (France); and others
In their comprehensive differential diagnosis of monogenic diseases that can mimic multiple sclerosis, Natowicz and Bejjani did not include a newly recognized monogenic disorder known under the acronym of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy); this disorder can mimic MS clinically and radiologically to a remarkable extent. The underlying histopathological lesion of CADASIL is a non-atherosclerotic, non-amyloid arteriopathy affecting mainly the penetrating medullary arteries to the subcortical white matter and basal ganglia. Electron microscopy shows an abnormal deposit of granular osmiophilic material in the arterial wall. These arterial changes are observed in various tissues even though clinical manifestations seem to be restricted to the central nervous system. The CADASIL gene was mapped recently to chromosome 19 and gene identification is ongoing. 6 refs., 1 fig.
- OSTI ID:
- 508249
- Journal Information:
- American Journal of Medical Genetics, Vol. 65, Issue 4; Other Information: PBD: 11 Nov 1996
- Country of Publication:
- United States
- Language:
- English
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