Search results
Results From The WOW.Com Content Network
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 ( PLP1 ), a major myelin protein.
This condition was first discovered in 1964 by E Zerbin-Rüdin et al. when they described (what they thought to be) a familial autosomal dominant variant of Pelizaeus-Merzbacher disease with onset in adulthood. [32]
While the disease is fatal, the age of onset is a key factor, as infants have a typical life expectancy of 2–8 years, while adults typically live more than a decade after onset. Treatment options are limited, although hematopoietic stem cell transplantations using bone marrow or cord blood seem to help in certain leukodystrophy types, while ...
Pelizaeus–Merzbacher disease: SPG3A: 182600: ATL1: 14q22.1 Autosomal dominant ... The majority of individuals with HSP have a normal life expectancy. [14] Epidemiology
Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease.It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane.
Get AOL Mail for FREE! Manage your email like never before with travel, photo & document views. Personalize your inbox with themes & tabs. You've Got Mail!
In a myelinoid model of Pelizaeus-Merzbacher disease (PMD) developed in 2018, treatment with a modulator of ER stress pathways called GSK2656157, an inhibitor of protein-kinase-R-like ER kinase, partially rescued PLP1 perinuclear retention mobilizing it away from the ER and into the processes of oligodendrocytes. [2]
UN: Estimate of life expectancy for various ages in 2023; Locations Life expectancy for population in general Life expectancy for male Life expectancy for female Sex gap; at birth bonus 0→15 at 15 bonus 15→65 at 65 bonus 65→80 at 80 at birth at 15 at 65 at 80 at birth at 15 at 65 at 80 at birth at 15 at 65 at 80 Hong Kong: 85.51: 0.21: 70 ...