Cerebral Amyloid Angiopathy
Patient Information
Characteristics
Background and History
This rare inherited disorder, sometimes called familial Danish dementia, has so far been reported only in Denmark.
Clinical Correlations
The signs and symptoms in this disorder appear in adults. Cataracts and deafness have their onset in the third decade of life. Dementia begins about age 50 and unsteadiness (ataxia) about the same time. Many patients have a tremor (fine, involuntary movements). These symptoms seem to result from deposition of foreign material (amyloid) in the blood vessels of the brain and spinal cord which leads to loss of neural tissue.
Genetics
Inheritance
This seems to be an autosomal dominant disorder in which a gene mutation is passed directly from parent to child.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis requires a multidisciplinary approach by neurologists and ophthalmologists. No treatment is available other than cataract surgery if necessary and most patients do not live beyond about the 5th or 6th decades.
Web Resources
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