Tetraspan myelin protein PMP22 and demyelinating peripheral neuropathies: New facts and hypotheses

It has been demonstrated that abnormal levels of PMP22 expression due to al tered gene dosage in CMT1A neuropathy alters Schwann cell growth and differ entiation. On the other hand, disease-related missense mutations within tra nsmembrane domains of PMP22 disturb intracellular protein trafficking leadi ng to accumulation of the mutant protein in the endoplasmic reticulum/Golgi compartment. Further, the recently reported association of PMP22 and P0 in peripheral myelin sheds new light on the almost identical phenotypes of CM T1A and CMT1B giving rise to a unifying hypothesis on disease mechanism. GL IA 29:182-185, 2000. (C) 2000 Wiley-Liss, Inc.