Multiple Sclerosis Research Repository

1. “Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation”: Garbern JY et al

-null PLP1 mutations

-proton MRS of PLP1-deficient patients showed reduced NAA levels, consistent with axonal loss; these patients showed a length dependent pattern of axonal loss without significant demyelination

-axonal degeneration occurs in humans lacking the major myelin protein PLP1

-disruption of PLP1 medicated axonal-glial interaction probably causes this axonal degeneration

-a similar mechanism may be responsible for axonal degeneration and clinical disability that occur in patients w MS