Article
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Brain : a journal of neurology - 1 Aug 2015
Verdura Edgard, Hervé Dominique, Scharrer Eva, Amador Maria Del Mar, Guyant-Maréchal Lucie, Philippi Anne, Corlobé Astrid, Bergametti Françoise, Gazal Steven, Prieto-Morin Carol, Beaufort Nathalie, Le Bail Benoit, Viakhireva Irina, Dichgans Martin, Chabriat Hugues, Haffner Christof, Tournier-Lasserve Elisabeth
Abstract excerpt
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also been reported. However, only a minority of patients with familial small vessel disease carry mutations in one of known small vessel disease genes. We used whole...
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