NEUROPATHOLOGY OF LUBAG (X-LINKED DYSTONIA-PARKINSONISM)

Lubag is an x-linked recessive dystonia parkinsonism that affects Fili pino men originating principally from the Panay Island. Linkage analys is has confirmed the mode of inheritance and localized the disease gen e to the proximal long arm of the x-chromosome. We studied the brain o f a 34 year old Filipino man affected with lubag. He developed truncal dystonia at age 30, which subsequently generalized. With disease prog ression, he also presented with parkinsonism including, rigidity, brad ykinesia, and impaired balance. His symptoms were largely unaffected b y medication and, at age 34, he underwent a right cryothalamotomy. He died suddenly 2 days after the procedure. The principal neuropathologi cal findings were neuronal loss and a multifocal mosaic pattern of ast rocytosis restricted to the caudate and lateral putamen. Similar findi ngs have been reported in two other men with dystonia-one Filipino and the other non-Filipino. The similar pathology of the two Filipino men suggests that this is the pathology of lubag. Recognition of this pat hology in a non-Filipino man suggests that the mutation causing lubag may not be restricted to the Filipino population.