The team took skin cells from patients with lissencephaly
and turned them into iPS cells they then cultivated under special conditions into neuronal stem cells and neurons that are copies of those in the patients' brains.
Failure of the glycosylation process leads to characteristic MRI findings which include type II ("cobblestone") lissencephaly
and myelination failure.
Yamamoto, "CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly
," Genomics, vol.
In addition to humans, lissencephaly
has been reported in dogs including Lhasa Apsos (LEE et al., 2011), wire fox terriers, Irish setters, samoyeds, in undefined breeds, a Korat cat (DE LAHUNTA & GLASS 2009), goats (SANTOS et al., 2013) and sheep (PEREZ et al., 2013).
and facial dysmorphism: is it Miller-Dieker syndrome?
(12); more severe anomalies (e.g., lissencephaly
) occur in infants whose mothers were infected before weeks 16-18 of pregnancy (13).
He was defying all the odds stacked against him after being diagnosed with a rare genetic disorder called Lissencephaly
with Miller-Dieker syndrome just three months after birth.
MDS is characterised by a developmental defect of the brain (type 1 lissencephaly
), which is caused by incomplete neuronal migration.
Jaxon was born on August 27, 2014 and received an official diagnosis of Lissencephaly
, in which the brain doesn't have the folds that it should.
Millie Williams, 10, cannot speak or walk because of the life-limiting and incurable brain condition, lissencephaly
As a typical example, ARX phenotypes can be responsible either in the West syndrome or in lissencephaly
In contrast, we do not have any particular causative gene or genes in well known, classic electroclinical syndromes such as JAE or JME.
Anna was born with lissencephaly
and she has endured many challenges during her lifetime.