P0 Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves

P0 Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves

We show that normal peripheral nerve myelination depends on strict dosage of the most abundantly expressed myelin gene, myelin protein zero (Mpz). Transgenic mice containing extra copies of Mpz manifested a dose-dependent, dysmyelinating neuropathy, ranging from transient perinatal hypomyelination to arrested myelination and impaired sorting of axons by Schwann cells. Myelination was restored b...

Glycoprotein Overexpression Causes Congenital Hypomyelination of Peripheral Nerves

We show that normal peripheral nerve myelination depends on strict dosage of the most abundantly expressed myelin gene, myelin protein zero ( Mpz ). Transgenic mice containing extra copies of Mpz manifested a dose-dependent, dysmyelinating neuropathy, ranging from transient perinatal hypomyelination to arrested myelination and impaired sorting of axons by Schwann cells. Myelination was restored...

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Hereditary demyelinating peripheral neuropathies consist of a heterogeneous group of genetic disorders that includes hereditary neuropathy with liability to pressure palsies (HNPP), Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas syndrome (DSS), and congenital hypomyelination (CH). The clinical classification of these neuropathies into discrete categories can sometimes be difficult because t...

Congenital hypomyelination neuropathy in a lamb.

Congen ita l hypomyelinati on neu ro path y is a rare co ndi t ion in a ll spec ies , includ ing human beings. In the ve terina ry lit erature relating to domesti c a ni ma ls, the re is on ly a sing le report , whi ch in vol ved two Golde n Retriever puppies in a litt er o f seven." T he present re po rt is th e fi rst o f a co nge ni ta l hypom yeli nati on ne uropa thy in a lamb. A 2month-o ...

Congenital hypomyelination neuropathy SWISS SOCIETY OF NEONATOLOGY