Brain Advance Access published online on June 9, 2005
Brain, doi:10.1093/brain/awh546
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1 Department of Neurology, Markusovszky Hospital, Szombathely, Hungary
* To whom correspondence should be addressed. Fabry's disease is an X-linked lysosomal storage disorder.
Received February 7, 2005
Revised April 20, 2005
Accepted April 21, 2005
Article
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the
-galactosidase A gene
2 Department of Infectology and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
3 Department of Neurology, Erzsébet Hospital, Sopron, Hungary
4 Institute of Neurology, Medical University of Vienna, Vienna, Austria
5 Department of Pathology, Erzsébet Hospital, Sopron, Hungary
6 Central Electron Microscopy Laboratory, Faculty of Medicine, University of Pécs, Pécs, Hungary
7 Dermatological Health Centre, Dr Batthyány-Strattmann László Hospital, Körmend, Hungary
Herbert Budka, E-mail: herbert.budka{at}kin.at
Abstract 
-Galactosidase deficiency leads to accumulation of globotriaosylceramide mainly in endothelial and smooth muscle cells. Cerebrovascular symptoms with predominant affection of the vertebrobasilar circulation are one of the major sources of morbidity in Fabry's disease. We present a Hungarian family with Fabry's disease caused by a new mutation in the -galactosidase A gene (GLA), and describe a variant expression of the disease. Megadolichobasilar anomaly was diagnosed in two male patients in the family who died of thrombosis. In another female patient who had suffered from disturbance of the vertebrobasilar circulation, a strongly dilated basilar artery without thrombosis was found at autopsy. Another three family members had basilar strokes and large and elongated basilar arteries on MRI. Genetic analysis disclosed a c.47T
C missense mutation resulting in L16P in the amino acid sequence of the -galactosidase protein. This report suggests that megadolichobasilar anomaly is potentially life-threatening, and that L16P is a disease-causing mutation in patients with Fabry's disease. Early enzyme replacement therapy may prevent the development of these irreversible cerebrovascular complications.
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