Q: I was diagnosed with cadasil and know what it is and what it does but I don’t think it gets the attention it deserves. Is there any way I can get the information to people?

A: For other readers who may not be aware of the disorder, CADASIL (previously known as multi infarct dementia) is an acronym for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, the most common type of hereditary stroke disorder known. It occurs because of thickened blood vessel walls that block the flow of blood to the brain and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. It belongs to a family of disorders referred to as leukodystrophies. Clinical features include those of sporadic small artery disease, although patients have an earlier age onset of stroke events, and a slightly variable pattern of ischemic white matter lesions noted on MRI that make earlier detection now possible.

The disorder is characterized by migraine headaches, multiple strokes, visual problems, cognitive deterioration that progresses slowly, seizures and depression. The risk of heart attack is believed to be greater than it is in those individuals without the disorder. Signs of CADASIL generally begin when a person is in his or her mid 30s or later. By the age of about 65, the majority of cases so diagnosed will experience cognitive difficulties and will develop dementia.

This autosomal dominant disorder, implies that only one parent is necessary to carry and pass on the defective gene. Most but not all individuals will have a family history; unfortunately but not surprising, genetic testing was unavailable before the year 2000 so many cases were misdiagnosed with other conditions such as Alzheimer’s, various neurodegenerative diseases and multiple sclerosis. I must add that genetic testing is now available for such conditions as Parkinson’s dementia but that too wasn’t the case a short time ago. Because the disease affects all organs, by doing a skin biopsy the pathologists can locate a characteristic finding that assures the diagnosis. As the old General Electric ad once said, progress is our most important product and research can certainly attest to that.

There is no treatment that will modify the course of CADASIL. Urinary incontinence, depression and headaches can be treated with varying degrees of success but the dementia dementia, strokes and TIAs are presumably treated with less success. Risk factors for stroke include elevated cholesterol levels, clotting disorders, and hypertension should be addressed and controlled by a health care professional. May be little known. Thanks to research, the National Institute of Neurological Disorders and Stroke continues with its research and also conducts clinical trials at its labs across the country. At this stage, scientists are investigating different drugs that will reduce cognitive problems in patients with CADASIL. This is promising news for individuals with the disorder.

You appear to have a great attitude and are dealing well with the condition. No one has written me about multi-infarct dementia a/k/a CADASIL so were it not for you, I would not have written this article. Thank you for sharing your information with the general public. Readers might log on to Cadasilfoundation.org for additional information.

Readers who would like related information can order Dr. Gott’s Health Report “Stroke” by sending a self-addressed, stamped number 10 envelope and a $2 US check or money order payable to Peter H. Gott, MD Health Report, PO Box 433, Lakeville, CT 06039. Be sure to mention the title or print an order form from www.AskDrGottMD.com.