PMP22 related congenital hypomyelination neuropathy

SHORT REPORT PMP22 related congenital hypomyelination neuropathy

The peripheral myelin protein 22 (PMP22) is a tetraspan membrane protein which is localised in the compact myelin of the peripheral nerves. In fibroblasts, where it was originally identified as growth arrest related factor 3 (Gas3), PMP22 has been shown to modulate cell proliferation; in the peripheral nervous system its roles are still debated. The duplication of PMP22 is the most common cause...

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

Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.

We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. Tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1+) in the lower extremities. Magnetic resonance imagi...

MicroRNA-deficient Schwann cells display congenital hypomyelination.

MicroRNAs, by modulating gene expression, have been implicated as regulators of various cellular and physiological processes, including differentiation, proliferation, and cancer. Here, we study the role of microRNAs in Schwann cell (SC) differentiation by conditional removal of the microRNA processing enzyme Dicer1. We reveal that both male and female mice lacking Dicer1 in SC (Dicer1 conditio...