An intrinsic neuronal defect operates in dystonia musculorum: a study of dt/dt<==>+/+ chimeras.


Journal Article

In the mouse mutant dystonia musculorum (dt), peripheral and central sensory axons develop focal swellings and degenerate. To identify the primary cellular target of the mutation, we have analyzed the spinal cords of dt/dt<==>+/+ aggregation chimeras. In these chimeras, characteristic swellings appeared only on the axons of mutant genotype neurons; the axons of wild-type neurons, identified by their expression of a transgene-encoded human neurofilament protein, were normal. This direct correlation of genotype and phenotype indicates that the dt mutation acts via a mechanism intrinsic to affected neurons. In addition, we show here that the dt mutation leads to a disorder of neurofilament processing in which phosphorylated neurofilament epitopes accumulate inappropriately in neuronal perikarya.

Full Text

Cited Authors

  • Campbell, RM; Peterson, AC

Published Date

  • October 1992

Published In

Volume / Issue

  • 9 / 4

Start / End Page

  • 693 - 703

PubMed ID

  • 1389184

Pubmed Central ID

  • 1389184

Electronic International Standard Serial Number (EISSN)

  • 1097-4199

International Standard Serial Number (ISSN)

  • 0896-6273

Digital Object Identifier (DOI)

  • 10.1016/0896-6273(92)90032-9


  • eng