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Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

U. Aguglia, MD, A. Gambardella, MD, G. J. Breedveld, BSc, R. L. Oliveri, MD, E. Le Piane, MD, D. Messina, MD, A. Quattrone, MD and P. Heutink, PhD

From the Regional Epilepsy Center (Drs. Aguglia and LePiane), Azienda Ospedaliera Bianchi Melacrino Morelli, Reggio Cal., Institute of Neurology (Drs. Gambardella, Oliveri, and Quattrone), University Magna Graecia Catanzaro, Institute of Neurological Sciences (Drs. Gambardella, Oliveri, Messina, and Quattrone), National Research Council, Cosenza, Italy; and Department of Clinical Genetics (Dr. Heutink, G.J. Breedveld), Erasmus Medical Center, Rotterdam, and Department of Human Genetics (Dr. Heutink), Section of Medical Genomics, VU University Medical Center, Amsterdam, the Netherlands.

Address correspondence and reprint requests to Dr. U. Aguglia, Centro Regionale Epilessie, Ospedali Riuniti, Via Melacrino, 89100 Reggio Cal., Italy; e-mail: u.aguglia{at}tin.it

A large three-generation family with autosomal dominant type 1 porencephaly from southern Italy was studied. A high rate of miscarriages was observed. Of the nine affected individuals, four displayed a severe phenotype, and five had slight pyramidal signs or mild cognitive abnormalities. The MRI study disclosed unilateral porencephalic cyst, or colpocephaly. A genome-wide screen resulted in suggestive evidence for linkage to chromosome 13qter with a maximum logarithm-of-the-odds score of 3.16, from multipoint analysis, with marker D13S285.

Received July 10, 2003. Accepted in final form December 23, 2003.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the May 11 issue to find the title link for this article.

Deceased.

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