Ella has pontocerebellar
hypoplasia which means she can do nothing for herself.
That sentiment was shared by 38-year-old Caerphilly mum Claire Curtis, whose three-year-old daughter Maisie has a rare genetic condition called pontocerebellar
hypoplasia type 2.
Recently there was a study showing that recessive mutations in a subunit of the exosome complex can lead to pontocerebellar hypoplasia, a rare neurological disorder characterized by impaired development or atrophy of parts of the brain," said Sen.
Once mutations in exosome complex genes are identified in either skin diseases or other diseases like pontocerebellar hypoplasia, it may be possible to design drugs targeting these defects," he added.
By contrast, pontocerebellar
projection fibers were particularly resistant to HIV effects, as were commissural fibers coursing through premotor and sensorimotor callosal sectors (Pfefferbaum et al.
The Linthorpe youngster was only three months old when he was diagnosed with pontocerebellar
hypoplasia - a rare condition that causes developmental delay and mobility problems.
The nervus intermedius enters the central nervous system at the pontocerebellar
groove lateral to the motor root and synapses with neurons in the upper part of the solitary tract of the medulla oblongata.
Age, y/Sex/Race Site 1 20/F/W Left frontal lobe 2 36/M/B Thoracic spinal cord 3 42/F/W Third ventricle 4 24/F/W Pontocerebellar
angle 5 39/M/B Leftfrontal lobe 6 29/F/W Septum pellucidum 7 35/M/B Right basal ganglia 8 29/F/A Left cerebrum 9 39/M/W Left frontal lobe 10 78/M/B Pituitary/frontal lobes 11 45/M/W Right frontal lobe 12 49/M/W Brainstem/basal ganglia 13 46/M/W Parietal/brainstem 14 61/M/W Bilateral 15 43/M/W Basal ganglia 16 46/F/W CP angle/spinal cord 17 43/F/B Right cerebrum 18 36/M/B Right temporal lobe 19([dagger]) 47/F/B Left frontal/basal ganglia 47/F/B Left frontal lobe 20 44/F/W Medulla 21 74/F/B Pituitary stalk 22 43/F/B Right fronto-orbital 23 7/M/W Right CP angle 24 15/F/W Corpus callosum 25 .
Maisie, of Senghenydd, Caerphilly, suffers with Pontocerebellar
hypoplasia, a rare inherited disorder characterised by an abnormally small brain and brainstem.