THE ROLE OF THE PROTEOLIPID PROTEIN IN TH E DEVELOPMENT OF CT AIII - AN OVERVIEW

During the sixties a sex-specific, hereditary form of congenital tremo r type A (CT A) appeared which was classified as CT AIII. The symptoms were the same as in other subtypes and only autopsy and differential diagnosis showed the distinctive signs of this disease. Pigs suffering from CT AIII fail to develop a tight myelin sheeth and contain a redu ced number oi oligodendrocytes in their CNS whereas no pathological ch anges can be detected in the PNS. The same symptoms as with CT AIII ap pear in various disorders in animals and humans. The cause for jimpy i n mice was traced back to a mutation in the PLP gene, in the course of these findings different mutations in the human PLP gene were identif ied and shown to be the reason for the rare Pelizaeus-Merzbacher-Disea se and the spastic paraplegia type 2. If one considers the clinical an d histological similarities between PLP mutants and CT AIII in pigs it is reasonable to assume that this X-linked gene plays a major role in the development of CT AIII. In the following we describe the isolatio n and characterization of the porcine PLP gene and its possible involv ement in congenital tremor type AIII.