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Familial hemiplegic migraine and autosomal dominant arteriopathy with leukoencephalopathy (CADASIL)
M Hutchinson1, J O'Riordan, M Javed
1Department of Neurology, St. Vincent's Hospital, Dublin, Ireland.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can present with familial hemiplegic migraine. This study reveals a broader spectrum of clinical symptoms for this genetic cerebrovascular disorder.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic cerebrovascular disorder linked to chromosome 19q12.
- Familial hemiplegic migraine (FHM) has been observed to co-localize with the CADASIL locus in some families.
Observation:
- A study investigated 15 members of an Irish family with suspected CADASIL.
- Magnetic resonance imaging (MRI) revealed CADASIL features in 10 individuals.
- Five family members experienced FHM, with 4 showing MRI evidence of CADASIL.
Findings:
- The CADASIL phenotype in this family included FHM, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction.
- Linkage analysis confirmed the CADASIL locus at chromosome 19.
- Clinical presentation was variable and age-dependent, highlighting a wider spectrum of manifestations.
Implications:
- This family study expands the understanding of CADASIL's clinical variability.
- Recognizing the diverse presentations is crucial for diagnosing this underrecognized familial cerebrovascular disorder.
- Further research into the genetic and phenotypic spectrum of CADASIL is warranted.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently described familial cerebrovascular disorder shown to map to chromosome 19q12. Familial hemiplegic migraine has also been shown in some families to map close to the CADASIL locus. The fully developed CADASIL phenotype consists of recurrent strokes developing in the fourth decade, progressing to a pseudobulbar palsy, spastic quadriparesis, and subcortical dementia. In an Irish family 15 members were fully investigated by magnetic resonance scanning; 10 had typical magnetic resonance features of CADASIL. Five members of this family had familial hemiplegic migraine and 4 of these had magnetic resonance evidence of CADASIL. Two other members had migraine with and without aura as a presenting clinical symptom of CADASIL. This disorder has been shown by linkage analysis to map to the CADASIL locus at chromosome 19. The phenotype at presentation of CADASIL in this family was variable and age related and included familial hemiplegic migraine, migraine with and without aura, transient ischemic attacks, strokes, and spinal cord infarction. This family study increases our understanding of the spectrum of clinical manifestations of this underrecognized familial cerebrovascular disorder.