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[Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family]
M N Binzer1, L Brattström, P Ottosen
1MBI@ribeamt.dk
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic disorder. A Notch 3 gene mutation was identified in a Danish family, expanding knowledge of this inherited arterial disease.
Area of Science:
- Neurology
- Genetics
- Pathology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, inherited arterial disease.
- Often misdiagnosed due to late onset and varied symptoms.
- CADASIL is linked to mutations in the Notch 3 gene on chromosome 19q12.
Observation:
- Presents clinical, pathological, radiological, and genetic findings from the first Danish CADASIL pedigree.
- Detailed examination of a specific family with the condition.
Findings:
- Genetic testing confirmed a Notch 3 mutation in the Danish family.
- The mutation involved a specific nucleotide substitution (position 475), altering an amino acid (arginine to cysteine at position 133) in the third EGF motif.
Implications:
- Contributes to understanding the phenotypic spectrum of CADASIL.
- Highlights the importance of genetic testing for accurate CADASIL diagnosis.
- Provides valuable data for future research into CADASIL pathogenesis and treatment.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare adult-onset inherited arterial disease with a distinctive neuropathological phenotype. Owing to its recent identification and variable mode of presentation, the disease is often misdiagnosed. The CADASIL gene is Notch 3 and has been mapped on chromosome 19q12 in several unrelated families. Knowledge of the phenotypic range of CADASIL, however, remains incomplete. Clinical, pathological radiological, and genetic findings in the first known Danish CADASIL pedigree are presented. Genetic testing confirmed a Notch 3 mutation. The mutation consisted of the substitution of a nucleotide at position 475 leading to the replacement of amino acid arginine for cysteine at position 133 in the third EGF motif.