Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.

We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations in DNAJC5 in a total of three families. We analyzed the clinical manifestations in 20 individuals with mutation in DNAJC5.

Graphic representation of carotid artery bruits.

Auscultation of the neck for detection of bruits over the carotid arteries has become a necessary part of any complete physical examination. Early detection of atherosclerotic occlusive disease in these vessels can play a major role in prevention of stroke. Such findings have previously been recorded as word descriptions in varying degrees of detail.

Prevention of recurrent stroke.

Victims of atherothrombotic infarction of the brain, the most common variety of stroke, frequently have recurrent strokes. Risk factors believed to accelerate such events include hypertension, diabetes mellitus, hyperlipidemia, atherosclerotic disease (of heart, aortocervical and intracranial vessels), erythrocythemia, stress, tobacco smoking, hyperuricemia, and perhaps obesity. Most prior studies indicate average anticipated 5 year mortality of 35 to 65 percent and stroke recurrence rate of 20 to 40 percent.