Bg. Baumgartner et B. Brenig, THE ROLE OF THE PROTEOLIPID PROTEIN IN TH E DEVELOPMENT OF CT AIII - AN OVERVIEW, DTW. Deutsche tierarztliche Wochenschrift, 103(10), 1996, pp. 404-407
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.