Two families have been described previously with the features of an autosomal dominant familial cerebral amyloid angiopathy with nonneuritic plaque formation. The clinical features of the cases were dementia, spastic paralysis and ataxia. It has now been established that both families were descended from a common ancestor and the case histories of 26 affected individuals in 5 generations of this pedigree are reported. An autopsy study has been performed on a recent case. The findings are described and compared with the four previously published autopsy studies in this family, which is then discussed in the context of recent advances in the nosology of familial disorders in which cerebral amyloid angiopathy and other forms of cerebral amyloid deposition occur.

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Cutaneous angiomata of the "port wine" variety are frequently associated with angiomata elsewhere in the body and particularly in the central nervous system. Retinal and nervous system involvement by angioma serpiginosum has, however, not previously been recorded. For this reason and also because of the unusual retinal abnormality in this patient, it is felt justifiable to report this single case, which may represent a new syndrome. Case reportA woman, born on March I3, 1929, was first admitted to the National Hospital, in July, I950, under the care of the late Dr. J. St C. Elkington. Her parents, four sisters, and three brothers were all alive and well and there was no family history of neurological illness or of cutaneous naevi. History At birth her skin was normal, but at the age of I year some angiomatous lesions were noted on the right leg. At 5 years these were more extensive and at the age of 7 years they were treated by cautery.At age I7 the patient underwent an appendicectomy and the right pupil was reported to be larger than the left. At the age of 21 years (I 950) she suddenly became aware of difficulty in elevating her right arm and over the next few months noticed clumsiness in the execution of fine movements with the right hand.In the following years, the right arm became progressively weaker with impaired sensation in the hand and in I962 she experienced attacks of burning pain in the upper arm lasting several hours. She also noted a sensation of fullness in the right orbit on bending down. The cutaneous angioma now involved the trunk, and new lesions appeared in the right axilla and on the adjacent medial aspect of the right arm.In I965 she first developed burning pain in the right side of the face, which persisted as did the attacks of pain in the right arm. The weakness of the right arm progressed and elevation became impossible without assistance. At about this time, she also began to experience attacks in which she would feel faint and occasionally fall to the ground. These episodes became more frequent, and occurred as often as four or five times a day, and though some were spontaneous others were precipitated by getting up suddenly or turning the head to the right.In I969, she developed nocturnal paraesthesiae in the left hand; the carpal-tunnel syndrome was diagnosed and the symptoms were relieved by surgical decompression. No change was noted in October, 1970, and she was still able to work as a hospital telephonist.The only ocular symptom reported has been of mild deterioration of vision in the right eye.