| Autor: |
Verreault, Steve, Joutel, Anne, Riant, Florence, Neves, Georgina, Rui Silva, Mario, Maciazek, Jacqueline, Tournier‐Lasserve, Elizabeth, Bousser, Marie‐Germaine, Chabriat, Hugues |
| Zdroj: |
Annals of Neurology; February 2006, Vol. 59 Issue: 2 p353-357, 5p |
| Abstrakt: |
Only few hereditary ischemic small vessel diseases of the brain (SVDB) have been reported so far. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent of them. Herein, we report a family affected by a SVDB distinct from CADASIL. After the occurrence of a small deep infarct associated with white matter lesions both in a 46‐year‐old man and in his 52‐year‐old sister, clinical and neuroimaging investigations were conducted in 13 of their relatives originating from Portugal. Other investigations included (1) skin biopsy immunostaining with a Notch3 monoclonal antibody, (2) sequencing of the 23 exons encoding the epidermal growth factor–like domains of the NOTCH3 gene, and (3) a NOTCH3 locus haplotype analysis. Diffuse white matter hyperintensities were observed on T2‐weighted magnetic resonance imaging (MRI) in six individuals. In contrast with MRI results in the father and paternal uncle of the proband who were hypertensive, white matter lesions were extensive in the mother who had no vascular risk factor. MRI data in four asymptomatic family members together with the results in the two initial cases were suggestive of an underlying hereditary small vessel disease of the brain. Skin biopsy and NOTCH3 gene mutation screening were negative. Haplotype analysis excluded the NOTCH3 locus. These data strongly suggest that this family is affected by a novel hereditary small vessel disease of the brainand that the mutated gene is distinct from NOTCH3. Ann Neurol 2006 |
| Databáze: |
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