Related Experiment Videos
Autosomal dominant migraine with MRI white-matter abnormalities mapping to the CADASIL locus
H Chabriat1, E Tournier-Lasserve, K Vahedi
1Service de Neurologie, Hôpital Saint-Antoine, Paris, France.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant cerebral arteriopathy mapped to chromosome 19 and characterized mainly by recurrent subcortical ischemic strokes and extensive white-matter signal abnormalities (WMAs) on magnetic resonance imaging. Other clinical features include migraine attacks and progressive subcortical dementia. Herein, we describe several members of the same family who suffered migraine attacks, mostly with aura, associated with WMAs, segregating with an autosomal dominant pattern of inheritance. One individual had a progressive subcortical dementia with similar WMAs. Although ischemic stroke, one of the hallmarks of CADASIL, was not present in this family, we hypothesized that the present disorder resulted from an alteration of the CADASIL gene. Genetic linkage analysis, using four chromosome 19 markers spanning the CADASIL locus, supports this hypothesis.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) may present with migraine and white-matter abnormalities. Genetic analysis suggests a link to the CADASIL gene, even without strokes.
Area of Science:
- Neurology
- Genetics
- Neuroimaging
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic brain disorder.
- It is characterized by strokes, dementia, and white-matter abnormalities on MRI, inherited in an autosomal dominant pattern.
Observation:
- A family presented with migraine, often with aura, and white-matter abnormalities (WMAs).
- These symptoms segregated with an autosomal dominant inheritance pattern.
- One family member exhibited progressive subcortical dementia with similar WMAs.
Findings:
- Despite the absence of ischemic strokes, the clinical presentation suggested a potential link to CADASIL.
- Genetic linkage analysis using chromosome 19 markers supported the hypothesis of an alteration in the CADASIL gene.
Implications:
- This study expands the phenotypic spectrum associated with the CADASIL gene.
- It highlights the importance of genetic analysis in diagnosing familial cerebrovascular disorders, even with atypical presentations.
- Further research may elucidate the precise mechanisms linking CADASIL gene alterations to migraine and WMAs.