Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
H Abou Al-Shaar, N Qadi, MH Al-Hamed… - Journal of the …, 2016 - Elsevier
Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is a hereditary microangiopathy caused by mutations in
NOTCH3, very rarely homoallelic. Objective To describe the clinical, radiological, and
neuropsychological features in an extended CADASIL family including members with either
a homozygous or heterozygous NOTCH3 R1231C mutation. Methods The pedigree
included 3 generations of a family with 13 affected individuals. The patients were examined …
leukoencephalopathy (CADASIL) is a hereditary microangiopathy caused by mutations in
NOTCH3, very rarely homoallelic. Objective To describe the clinical, radiological, and
neuropsychological features in an extended CADASIL family including members with either
a homozygous or heterozygous NOTCH3 R1231C mutation. Methods The pedigree
included 3 generations of a family with 13 affected individuals. The patients were examined …