About 60% of the patients with XGS exhibit abnormal MRI and brain malformations including thinningofthecorpuscallosum, (7) hypomyelination
, leukomalacia, and less frequently a cyst in the posterior fossa.
Abdullah Hassan passed away on Friday from a rare brain disease, hypomyelination
, in a children's hospital in Oakland, California, RT reported.
Abdullah was diagnosed with hypomyelination
, a brain disease that has affected his ability to breathe.
of Patients (Percentage) 1) Periventricular leukomalacia 39 (40%) and hypomyelination
2) Malformation of cortical 5 (5.1%) development 3) Corpus callosum abnormality 42 (43.3%) 4) Diffuse cerebral atrophy, 53 (54.6%) cerebellar atrophy and gliosis 5) Arnold-Chiari and Dandy-Walker 4 (4.1%) syndrome 6) Thalamus and Globus Pallidus 11 (11.1%) lesion 7) Vascular abnormality 1 (1.03%) 8) Perinatal asphyxia changes 87 (89.7%)
IGF-1 gene disruption results in reduced brain size, CNS hypomyelination
, a decrease in dendritic spine density, reduction in presynaptic protein- synaptotagmin levels and loss of hippocampal granule and striatal parvalbumin-containing neurons, implying synapse loss in the absence of IGF-1 .
Unlike other leukodystrophies in which there is a period of normal cortical myelination an then comes a disruption resulting in the lost of myelin sheaths (demyelination), PMD has, from the beginning, an abnormal or low production of this very important protein (hypomyelination
), due to a damage on the PLP1 gene coding for the Protelipidic Protein type 1 that interferes with the oligodendrocyte synthesis of fully functional myelin sheaths and probably also affects the peripheral function of myelinated axons (3,8).
Rousset et al., Maternal Exposure to LPS Induces Hypomyelination
in the Internal Capsule and Programmed Cell Death in the Deep Gray Matter in Newborn Rats, 59(3) PEDIATRIC RES.
Lack of iron is associated with hypomyelination
which can affect all of the nervous systems, as well as the optic nerve, which is constituted mainly by myelinated fibers .
Similar observations are described for the immature brain where neuronal abnormalities and distorted white matter development resulting in hypomyelination
are observed together with rarefication of progenitor cell populations.
Pyle et al., "EXOSC8 mutations alter mRNA metabolism and cause hypomyelination
with spinal muscular atrophy and cerebellar hypoplasia," Nature Communications, vol.
POL-III [4H leukodystrophy (4H)] leukodystrophy is characterised by a triad of hypomyelination
, hypodontia, and hypogonadotropic hypogonadism .